BBS1 Gene

Alternative Names

BBS1

Length

23,008 bases

No. of Exons

No. of isoforms

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

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_024649.4:c.320_332dup	Lebanon	NC_000011.10:g.66514566_66514578dup		Likely Pathogenic	Bardet-Biedl Syndrome 1	NG_009093.1:g.8919_8931dup; NM_024649.4:c.320_332dup; NP_078925.3:p.Val112PhefsTer9
NM_024649.5:c.1110+329C>T	Saudi Arabia	NC_000011.10:g.66524211C>T		Pathogenic	Bardet-Biedl Syndrome 1	NG_009093.1:g.18564C>T; NM_024649.5:c.1110+329C>T	1372953067
NM_024649.5:c.124+1G>A	Saudi Arabia	NC_000011.10:g.66511090G>A	Pathogenic	Pathogenic	Bardet-Biedl Syndrome 1	NG_009093.1:g.5443G>A; NM_024649.5:c.124+1G>A	1057516449	557428
NM_024649.5:c.1684G>A	Saudi Arabia; United A...	NC_000011.10:g.66531731G>A		Benign		NG_009093.1:g.26084G>A; NM_024649.5:c.1684G>A; NP_078925.3:p.Asp562Asn	768098877
NM_024649.5:c.436C>T	Tunisia	NC_000011.10:g.66515543C>T	Likely Pathogenic, Pathogenic	Likely Pathogenic	Bardet-Biedl Syndrome 1	NG_009093.1:g.9896C>T; NM_024649.5:c.436C>T; NP_078925.3:p.Arg146Ter	786204444	188752
NM_024649.5:c.889C>T	United Arab Emirates	NC_000011.10:g.66523514C>T				NG_009093.1:g.17867C>T; NM_024649.5:c.889C>T; NP_078925.3:p.Arg297Trp	762566248
NM_024649.5:c.951+58C>T	Saudi Arabia	NC_000011.10:g.66523634C>T	Pathogenic	Likely Pathogenic, Pathogenic	Bardet-Biedl Syndrome 1	NG_009093.1:g.17987C>T; NM_024649.5:c.951+58C>T	1856346961	917920

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External Links

https://medlineplus.gov/genetics/gene/bbs1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=BBS1

Contributors

Pratibha Nair: 07.07.2021

Edit History

Sami Bizzari: 22.11.2022
Sayeeda Hana: 20.07.2022
Pratibha Nair: 07.07.2021
Asha Deepthi: 22.04.2020

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