NM_194248.2:c.4157C>T - CAGS

NM_194248.2:c.4157C>T

HGVS Expressions

NG_009937.1:g.96264C>T
NM_194248.2:c.4157C>T
NP_919224.1:p.Thr1386Ile
NC_000002.12:g.26467435G>A

Associated Genes

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
601071.3.1	Palestine	2	Pathogenic	Deafness, Autosomal Recessive 9	Shahin et al. 2010
601071.3.2	Palestine	2	Pathogenic	Deafness, Autosomal Recessive 9	Shahin et al. 2010	Sibling of 601071.3.1
601071.3.3	Palestine	2	Pathogenic	Deafness, Autosomal Recessive 9	Shahin et al. 2010	Sibling of 601071.3.1

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Contributors

Pratibha Nair: 25.02.2019

Edit History

Sami Bizzari: 12.09.2022
Rahila Mir: 17.02.2022
Pratibha Nair: 25.02.2019

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.