LOVD - Variant listings for BBS10

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1 c.32T>G - - p.(Val11Gly) Substitution BBS10_00060 Not found in 192 lebanese control chromosomes. Laurier et al., (2006) - - DNA SEQ
1 c.39_46del c.37_44delGCGGCGTT (A13fsX81) - p.(Ala14Glyfs*79) Deletion BBS10_00018 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
1 c.101G>C - - p.(Arg34Pro) Substitution BBS10_00019 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
1 c.128G>A c.128A>G - p.(Gly43Asp) Substitution BBS10_00003 - Muller et al. (2010) - - DNA DHPLC, SEQ
1 c.145C>T
  (Reported 24 times)
- - p.(Arg49Trp) Substitution BBS10_00008 - Hjortshoj et al. (2009) - - DNA DHPLC, SEQ
1 c.185A>G - - p.(His62Arg) Substitution BBS10_00055 - Putoux et al., (2010) - - DNA SEQ
1i c.197+1G>T - - p.? Substitution BBS10_00065 Absent in 300 control chromosomes Deveault et al., (2011) - - DNA SEQ
2 c.164T>C
  (Reported 3 times)
- - p.(Leu55Pro) Substitution BBS10_00046 Absent in 300 control chromosomes. Billingsley et al. (2010) - - DNA PCR, SEQ
2 c.219_229del
  (Reported 3 times)
(S73fsX91) - p.(Ser74Lysfs*18) Deletion BBS10_00022 Absent in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.271dupT
  (Reported 127 times)
c.271_272insT - p.(Cys91Leufs*5) Duplication BBS10_00002 - Hjortshoj et al. (2009) - - DNA DHPLC, SEQ
2 c.273C>G
  (Reported 11 times)
- - p.(Cys91Trp) Substitution BBS10_00010 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.285A>T - - p.(Arg95Ser) Substitution BBS10_00064 - Redin et al., (2012) - - DNA SEQ
2 c.309_310delAG - - p.(Glu104Lysfs*7) Deletion BBS10_00041 Absent in 300 control chromosomes. Billingsley et al. (2010) - - DNA PCR, SEQ
2 c.391delC - - p.(Gln131Argfs*4) Deletion BBS10_00058 Absent in 192 control chromosomes. Janssen et al., (2011) - - DNA SEQ
2 c.509T>C
  (Reported 2 times)
- - p.(Leu170Ser) Substitution BBS10_00014 - Stoetzel et al., (2006) - - DNA SEQ
2 c.530A>G
  (Reported 2 times)
- - p.(Tyr177Cys) Substitution BBS10_00050 Absent in 180 control chromosomes. Harville et al., (2010) - - DNA SEQ
2 c.539G>A
  (Reported 2 times)
- - p.(Gly180Glu) Substitution BBS10_00009 Not detected in 192 control chromosomes. Janssen et al., (2011) - - DNA SEQ
2 c.563A>C
  (Reported 2 times)
- - p.(Lys188Thr) Substitution BBS10_00044 Absent in 300 control chromosomes. in cis with c.1907C>T (p.(Ala636Val)). Billingsley et al. (2010) - - DNA PCR, SEQ
2 c.585T>G
  (Reported 2 times)
- - p.(Cys195Trp) Substitution BBS10_00011 - Stoetzel et al., (2006) - - DNA SEQ
2 c.590A>G - - p.(Tyr197Cys) Substitution BBS10_00024 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.591_596delCTTTTT
  (Reported 2 times)
c.591delCTTTTT - p.(Phe198_Phe199del) Deletion BBS10_00005 - Muller et al. (2010) - - DNA SEQ
2 c.594_596delTTT - - p.(Phe199del) Deletion BBS10_00025 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.687del
  (Reported 4 times)
- - p.(Val230Phefs*7) Deletion BBS10_00026 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.688del - - p.(Val230Phefs*7) Substitution BBS10_00042 - Billingsley et al. (2010) - - DNA PCR, SEQ
2 c.719T>G
  (Reported 2 times)
- - p.(Val240Gly) Substitution BBS10_00015 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.724delC
  (Reported 4 times)
- - p.(Gln242Argfs*17) Deletion BBS10_00016 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.728_731delAAGA
  (Reported 13 times)
c.995_999delAAGA - p.(Lys243Ilefs*15) Deletion BBS10_00001 Not detected in 72 control chromosomes. White et al., (2007) - - DNA SEQ
2 c.765G>A - - p.(Met255Ile) Substitution BBS10_00063 - Hjortshoj et al. (2009) - - DNA SEQ
2 c.815_822dup - - p.(Phe275Aspfs*6) Substitution BBS10_00036 - Stoetzel et al., (2006) - - DNA SEQ
2 c.821_822del
  (Reported 2 times)
- - p.(Glu274Valfs*29) Deletion BBS10_00047 Absent in 300 control chromosomes. Billingsley et al. (2010) - - DNA PCR, SEQ
2 c.886G>A - - p.(Ala296Thr) Substitution BBS10_00062 - Billingsley et al. (2010) - - DNA SEQ
2 c.909_912delTCAG
  (Reported 8 times)
c.909delTCAG - p.(Ser303Argfs*3) Deletion BBS10_00012 - Stoetzel et al., (2006) - - DNA SEQ
2 c.924G>T
  (Reported 2 times)
- - p.(Leu308Phe) Substitution BBS10_00034 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.931T>G
  (Reported 13 times)
- - p.(Ser311Ala) Substitution BBS10_00017 Absent in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.963T>G
  (Reported 2 times)
- - p.(Tyr321*) Substitution BBS10_00013 - Stoetzel et al., (2006) - - DNA SEQ
2 c.968C>T
  (Reported 2 times)
- - p.(Ala323Val) Substitution BBS10_00052 Absent in 192 control chromosomes (European origin). Chen et al., 2011 - - DNA SEQ
2 c.986C>T - - p.(Ser329Leu) Substitution BBS10_00027 Absent in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.1042_1043del L348fsX360 - p.(Leu348Profs*13) Deletion BBS10_00059 - Imhoff et al., (2011) - - DNA SEQ
2 c.1044_1045del
  (Reported 4 times)
c.1043_1045delTT (L348fsX360) - p.(Pro350Ilefs*11) Substitution BBS10_00029 - Stoetzel et al., (2006) - - DNA SEQ
2 c.1075C>T
  (Reported 10 times)
- - p.(Gln359*) Substitution BBS10_00068 - Khan et al., 2013 - - DNA SEQ
2 c.1088C>T - - p.(Pro363Leu) Substitution BBS10_00028 Absent in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.1091delA
  (Reported 4 times)
- - p.(Asn364Thrfs*5) Deletion BBS10_00004 - Muller et al. (2010) - - DNA SEQ
2 c.1101_1102delinsT
  (Reported 2 times)
- - p.(Leu367Phefs*2) Insertion/Deletion BBS10_00031 - Stoetzel et al., (2006) - - DNA SEQ
2 c.1171_1181dup
  (Reported 2 times)
- - p.(Ser396Leufs*6) Duplication BBS10_00067 - Redin et al., (2012) - - DNA SEQ
2 c.1230T>G
  (Reported 2 times)
- - p.(His410Gln) Substitution BBS10_00048 Not found in 300 control chromosomes. Billingsley et al. (2010) - - DNA PCR, SEQ
2 c.1241T>C
  (Reported 10 times)
- - p.(Leu414Ser) Substitution BBS10_00021 Absent in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.1250C>T - - p.(Ala471Val) Substitution BBS10_00056 - Janssen et al., (2011) - - DNA SEQ
2 c.1333C>A - - p.(Leu445Ile) Substitution BBS10_00049 - Chen et al., 2011 - - DNA SEQ
2 c.1407T>G
  (Reported 4 times)
- - p.(Tyr469*) Substitution BBS10_00057 - Janssen et al., (2011) - - DNA HD, SEQ
2 c.1420_1432del
  (Reported 4 times)
- - p.(Ala474Metfs*10) Deletion BBS10_00023 Absent in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.1448_1452del
  (Reported 3 times)
c.1448delCTCAA - p.(Thr483Asnfs*8) Deletion BBS10_00039 - Muller et al. (2010) - - DNA SEQ
2 c.1495G>T
  (Reported 2 times)
- - p.(Glu499*) Substitution BBS10_00051 - Chen et al., 2011 - - DNA SEQ
2 c.1540del
  (Reported 2 times)
T514fsX523 - p.(Thr514Glnfs*10) Deletion BBS10_00032 - Stoetzel et al., (2006) - - DNA SEQ
2 c.1542delA
  (Reported 2 times)
- - p.(Asp515Ilefs*9) Deletion BBS10_00040 - Muller et al. (2010) - - DNA SEQ
2 c.1543_1546dupGATA - - p.(Thr516Argfs*7) Duplication BBS10_00054 Absent in 192 control chromosomes (European origin). - - - DNA SEQ
2 c.1599_1602delAACT
  (Reported 2 times)
c.1599delAACT - p.(Thr534Ilefs*21) Deletion BBS10_00006 Not detected in 192 control chromosomes. Muller et al. (2010) - - DNA SEQ
2 c.1677C>A
  (Reported 2 times)
- - p.(Tyr559*) Substitution BBS10_00043 Absent in 300 control chromosomes. Billingsley et al. (2010) - - DNA PCR, SEQ
2 c.1736A>G
  (Reported 2 times)
- - p.(Lys579Arg) Substitution BBS10_00035 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.1799T>C - - p.(Leu600Ser) Substitution BBS10_00066 Absent in 300 control chromosomes. Deveault et al., (2011) - - DNA SEQ
2 c.1804G>C - - p.(Val602Leu) Substitution BBS10_00053 Absent in 192 control chromosomes (European origin) Chen et al., 2011 - - DNA SEQ
2 c.1837T>C
  (Reported 2 times)
- - p.(Tyr613His) Substitution BBS10_00037 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.1838A>G - - p.(Tyr613Cys) Substitution BBS10_00030 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.1867C>T - - p.(Gln623*) Substitution BBS10_00007 Not detected in more than 100 control chromosomes. Hjortshoj et al. (2009) - - DNA DHPLC, SEQ
2 c.1907C>T
  (Reported 2 times)
- - p.(Ala636Val) Substitution BBS10_00045 absent in 300 control chromosomes. In cis with c.563A>C (p.(Lys188Thr)). Billingsley et al. (2010) - - DNA PCR, SEQ
2 c.1958_1967del
  (Reported 4 times)
- - p.(Ser653Ilefs*4) Deletion BBS10_00069 - Agha et al., 2013 - - DNA SEQ
2 c.2030G>T - - p.(Gly677Val) Substitution BBS10_00033 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.2065A>C - - p.(Thr689Pro) Substitution BBS10_00038 - Muller et al. (2010) - - DNA SEQ
2 c.2119_2120del
  (Reported 5 times)
c.2118_2119del (V707fsX708) - p.(Val707*) Deletion BBS10_00020 Not detected in 192 control chromosomes. Stoetzel et al., (2006) - - DNA SEQ
2 c.2144A>G - - p.(His715Arg) Substitution BBS10_00061 - Billingsley et al. (2010) - - DNA SEQ
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Legend: [ BBS10 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA published: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Type: Type of variant at DNA level. BBS10 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Frequency: Frequency if variant is non pathogenic. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation.