BBS10 Gene

Alternative Names

BBS10
Chromosome 12 Open Reading Frame 58
C12ORF58
FLJ23560

Length

3,969 bases

No. of Exons

No. of isoforms

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 Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_024685.3:c.1736A>G	Saudi Arabia	NC_000012.12:g.76346249T>C	Likely Benign, Uncertain Significance	Likely Pathogenic	Bardet-Biedl Syndrome 10	NG_016357.1:g.7194A>G; NM_024685.3:c.1736A>G; NP_078961.3:p.Lys579Arg	141521925	35751
NM_024685.4:c.1091del	Arab; Oman	NC_000012.12:g.76346895del	Likely Pathogenic, Pathogenic	Pathogenic	Bardet-Biedl Syndrome 10	NG_016357.1:g.6549del ; NM_024685.4:c.1091del; NP_078961.3:p.Asn364ThrfsTer5	727503818	166723
NM_024685.4:c.1365T>G	Saudi Arabia	NC_000012.12:g.76346620A>C	Pathogenic	Pathogenic	Bardet-Biedl Syndrome 10	NG_016357.1:g.6823T>G; NM_024685.4:c.1365T>G; NP_078961.3:p.Tyr455Ter	778731343	1029918
NM_024685.4:c.1889_1893del	Saudi Arabia	NC_000012.12:g.76346092_76346096del		Pathogenic	Bardet-Biedl Syndrome 10	NG_016357.1:g.7347_7351del; NM_024685.4:c.1889_1893del; NP_078961.3:p.Ser630AsnfsTer4
NM_024685.4:c.1892_1896del	Saudi Arabia	NC_000012.12:g.76346091_76346095del	Pathogenic	Pathogenic	Bardet-Biedl Syndrome 10	NG_016357.1:g.7350_7354del; NM_024685.4:c.1892_1896del; NP_078961.3:p.Met631AsnfsTer3	1266814704	2735913
NM_024685.4:c.271dup	Arab; Oman	chr12:76347716	Pathogenic	Pathogenic	Bardet-Biedl Syndrome 10	NG_016357.1:g.5729dup; NM_024685.4:c.271dup; NP_078961.3:p.Cys91fs	549625604	1328
NM_024685.4:c.32T>G	Lebanon	NC_000012.12:g.76348327A>C	Uncertain Significance	Pathogenic	Bardet-Biedl Syndrome 10	NG_016357.1:g.5116T>G; NM_024685.4:c.32T>G; NP_078961.3:p.Val11Gly	137852838	1332
NM_024685.4:c.509T>C	Tunisia	NC_000012.12:g.76347476A>G		Uncertain Significance	Bardet-Biedl Syndrome 10	NG_016357.1:g.5967T>C; NM_024685.4:c.509T>C ; NP_078961.3:p.Leu170Ser	780916348
NM_024685.4:c.-52C>T	Saudi Arabia	NC_000012.12:g.76348410G>A	Benign	Benign		NG_016357.1:g.5033C>T; NM_024685.4:c.-52C>T	79580268	310502
NM_024685.4:c.724del	Lebanon	NC_000012.12:g.76347261del	Pathogenic	Likely Pathogenic	Bardet-Biedl Syndrome 10	NG_016357.1:g.6182del; NM_024685.4:c.724del; NP_078961.3:p.Gln242fs	1565809995	585180
NM_024685.4:c.728_731del	Oman; Saudi Arabia	NC_000012.12:g.76347257_76347260del	Likely Pathogenic, Pathogenic	Pathogenic	Bardet-Biedl Syndrome 10	NG_016357.1:g.6186_6189del; NM_024685.4:c.728_731del; NP_078961.3:p.Lys243IlefsTer15	786204671	189071
NM_024685.4:c.931T>G	Lebanon	chr12:76347054	Pathogenic	Likely Pathogenic, Pathogenic	Bardet-Biedl Syndrome 10	NG_016357.1:g.6389T>G; NM_024685.4:c.931T>G; NP_078961.3:p.Ser311Ala	137852837	1331

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External Links

https://ghr.nlm.nih.gov/gene/BBS10 https://www.genecards.org/cgi-bin/carddisp.pl?gene=BBS10

Contributors

Pratibha Nair: 10.12.2007
Eiman Ibrahim: 12.08.2007
Pratibha Nair: 02.08.2006

Edit History

Sami Bizzari: 22.11.2022
Sayeeda Hana: 20.07.2022
Asha Deepthi: 27.04.2020
Sayeeda Hana: 14.04.2020
Sayeeda Hana: 10.04.2020
Pratibha Nair: 07.06.2012
Tasneem Obeid: 17.04.2008
Pratibha Nair: 27.12.2007
Pratibha Nair: 29.08.2006

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