Collagen, Type Vi, Alpha-3 - CAGS

Collagen, Type Vi, Alpha-3

Alternative Names

COL6A3

Associated Diseases

Ullrich Congenital Muscular Dystrophy 1

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OMIM Number

NCBI Gene ID

Uniprot ID

Length

90,147 bases

No. of isoforms

5

Protein Name

Collagen alpha-3(VI) chain

Molecular Mass

343669 Da

Amino Acid Count

3177

Genomic Location

chr2:237,324,018-237,414,164

Gene Map Locus

2q37.3

Description

The COL6A3 gene encodes the alpha-3 chain of type VI collagen. [From OMIM]

Epidemiology in the Arab World

Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_004369.4:c.6238G>T	Saudi Arabia	NC_000002.12:g.237360132C>A				NM_004369.4:c.6238G>T; NP_004360.2:p.Gly2080Cys
NM_004369.4:c.7094del	Saudi Arabia	NC_000002.12:g.237345214del		Likely Pathogenic	Ullrich Congenital Muscular Dystrophy 1	NM_004369.4:c.7094del; NP_004360.2:p.Gly2365ValfsTer39
NM_004369.4:c.7162+1G>A	Saudi Arabia	NC_000002.12:g.237345057C>T	Likely Pathogenic	Likely Pathogenic	Ullrich Congenital Muscular Dystrophy 1	NG_008676.1:g.74151G>A; NM_004369.4:c.7162+1G>A; NP_004360.2:p.?		2203290

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External Links

https://medlineplus.gov/genetics/gene/col6a3/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=COL6A3

Contributors

Pratibha Nair: 21.11.2023

Edit History

Pratibha Nair: 21.11.2023
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004
Ghazi O. Tadmouri: 28.02.2004

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.