BBS1 Gene

Alternative Names

  • BBS1

Associated Diseases

Bardet-Biedl Syndrome 1
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OMIM Number

209901

NCBI Gene ID

582

Uniprot ID

Q8NFJ9

Length

23,008 bases

No. of Exons

17

No. of isoforms

3

Protein Name

Bardet-Biedl syndrome 1 protein

Molecular Mass

65083 Da

Amino Acid Count

593

Genomic Location

chr11:66,510,606-66,533,613

Gene Map Locus
11q13.2

Description

Mutations in BBS1 gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_024649.4:c.320_332dupLebanonNC_000011.10:g.66514566_66514578dupLikely PathogenicBardet-Biedl Syndrome 1NG_009093.1:g.8919_8931dup; NM_024649.4:c.320_332dup; NP_078925.3:p.Val112PhefsTer9
NM_024649.5:c.1110+329C>TSaudi ArabiaNC_000011.10:g.66524211C>TPathogenicBardet-Biedl Syndrome 1NG_009093.1:g.18564C>T; NM_024649.5:c.1110+329C>T1372953067
NM_024649.5:c.124+1G>ASaudi ArabiaNC_000011.10:g.66511090G>APathogenicPathogenicBardet-Biedl Syndrome 1NG_009093.1:g.5443G>A; NM_024649.5:c.124+1G>A1057516449557428
NM_024649.5:c.1684G>ASaudi Arabia; United A...NC_000011.10:g.66531731G>ABenignNG_009093.1:g.26084G>A; NM_024649.5:c.1684G>A; NP_078925.3:p.Asp562Asn768098877
NM_024649.5:c.436C>TTunisiaNC_000011.10:g.66515543C>TLikely Pathogenic, PathogenicLikely PathogenicBardet-Biedl Syndrome 1NG_009093.1:g.9896C>T; NM_024649.5:c.436C>T; NP_078925.3:p.Arg146Ter786204444188752
NM_024649.5:c.889C>TUnited Arab EmiratesNC_000011.10:g.66523514C>TNG_009093.1:g.17867C>T; NM_024649.5:c.889C>T; NP_078925.3:p.Arg297Trp762566248
NM_024649.5:c.951+58C>TSaudi ArabiaNC_000011.10:g.66523634C>TPathogenicLikely Pathogenic, PathogenicBardet-Biedl Syndrome 1NG_009093.1:g.17987C>T; NM_024649.5:c.951+58C>T1856346961917920
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