Clarin 2

Alternative Names

CLRN2

Length

11,940 bases

No. of Exons

Protein Name

Clarin-2

Molecular Mass

25446 Da

Amino Acid Count

232

Genomic Location

chr4:17,515,164-17,527,103

Gene Map Locus

4p15.32

Description

This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [From RefSeq]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001079827.2:c.494C>A	United Arab Emirates	NC_000004.12:g.17526877C>A	Pathogenic	Likely Pathogenic	Deafness, Autosomal Recessive 117	NM_001079827.2:c.494C>A; NP_001073296.1:p.Thr165Lys	1711990645	996040

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=clrn2

Contributors

Asha Deepthi: 13.05.2022

Edit History

Asha Deepthi: 13.05.2022

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