BBS10 Gene

Alternative Names

  • BBS10
  • Chromosome 12 Open Reading Frame 58
  • C12ORF58
  • FLJ23560
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OMIM Number

610148

NCBI Gene ID

79738

Uniprot ID

Q8TAM1

Length

3,969 bases

No. of Exons

2

No. of isoforms

1

Protein Name

Bardet-Biedl Syndrome 10 Protein

Molecular Mass

80838 Da

Amino Acid Count

723

Genomic Location

chr12:76,344,473-76,348,414

Gene Map Locus
12q21.2

Description

C12ORF58 is implicated in a form of Bardet Biedl syndrome, called BBS10. It has been shown to encode a novel, and fast evolving vertebrate specific chaperonin-like protein.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_024685.3:c.1736A>GSaudi ArabiaNC_000012.12:g.76346249T>CLikely Benign, Uncertain SignificanceLikely PathogenicBardet-Biedl Syndrome 10NG_016357.1:g.7194A>G; NM_024685.3:c.1736A>G; NP_078961.3:p.Lys579Arg14152192535751
NM_024685.4:c.1091delArab; OmanNC_000012.12:g.76346895delLikely Pathogenic, PathogenicPathogenicBardet-Biedl Syndrome 10NG_016357.1:g.6549del ; NM_024685.4:c.1091del; NP_078961.3:p.Asn364ThrfsTer5727503818166723
NM_024685.4:c.1365T>GSaudi ArabiaNC_000012.12:g.76346620A>CPathogenicPathogenicBardet-Biedl Syndrome 10NG_016357.1:g.6823T>G; NM_024685.4:c.1365T>G; NP_078961.3:p.Tyr455Ter7787313431029918
NM_024685.4:c.1889_1893delSaudi ArabiaNC_000012.12:g.76346092_76346096delPathogenicBardet-Biedl Syndrome 10NG_016357.1:g.7347_7351del; NM_024685.4:c.1889_1893del; NP_078961.3:p.Ser630AsnfsTer4
NM_024685.4:c.1892_1896delSaudi ArabiaNC_000012.12:g.76346091_76346095delPathogenicPathogenicBardet-Biedl Syndrome 10NG_016357.1:g.7350_7354del; NM_024685.4:c.1892_1896del; NP_078961.3:p.Met631AsnfsTer312668147042735913
NM_024685.4:c.271dupArab; Omanchr12:76347716PathogenicPathogenicBardet-Biedl Syndrome 10NG_016357.1:g.5729dup; NM_024685.4:c.271dup; NP_078961.3:p.Cys91fs5496256041328
NM_024685.4:c.32T>GLebanonNC_000012.12:g.76348327A>CUncertain SignificancePathogenicBardet-Biedl Syndrome 10NG_016357.1:g.5116T>G; NM_024685.4:c.32T>G; NP_078961.3:p.Val11Gly1378528381332
NM_024685.4:c.509T>CTunisiaNC_000012.12:g.76347476A>GUncertain SignificanceBardet-Biedl Syndrome 10NG_016357.1:g.5967T>C; NM_024685.4:c.509T>C ; NP_078961.3:p.Leu170Ser780916348
NM_024685.4:c.-52C>TSaudi ArabiaNC_000012.12:g.76348410G>ABenignBenignNG_016357.1:g.5033C>T; NM_024685.4:c.-52C>T79580268310502
NM_024685.4:c.724delLebanonNC_000012.12:g.76347261delPathogenicLikely PathogenicBardet-Biedl Syndrome 10NG_016357.1:g.6182del; NM_024685.4:c.724del; NP_078961.3:p.Gln242fs1565809995585180
NM_024685.4:c.728_731delOman; Saudi ArabiaNC_000012.12:g.76347257_76347260delLikely Pathogenic, PathogenicPathogenicBardet-Biedl Syndrome 10NG_016357.1:g.6186_6189del; NM_024685.4:c.728_731del; NP_078961.3:p.Lys243IlefsTer15786204671189071
NM_024685.4:c.931T>GLebanonchr12:76347054PathogenicLikely Pathogenic, PathogenicBardet-Biedl Syndrome 10NG_016357.1:g.6389T>G; NM_024685.4:c.931T>G; NP_078961.3:p.Ser311Ala1378528371331
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