NM_194248.3:c.2239G>T - CAGS

NM_194248.3:c.2239G>T

HGVS Expressions

NG_009937.1:g.85974G>T
NM_194248.3:c.2239G>T
NP_919224.1:p.Glu747Ter
NC_000002.12:g.26477725C>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
601071.7.1	Tunisia	2	Pathogenic	Deafness, Autosomal Recessive 9	Souissi et al. 2021	Patient from "family 4" in the publicati...
601071.7.2	Tunisia	1			Souissi et al. 2021	Father of 601071.7.1
601071.7.G	Tunisia	4	Pathogenic	Deafness, Autosomal Recessive 9	Souissi et al. 2021	Two sisters of 601071.7.1

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Contributors

Asha Deepthi: 12.02.2025

Edit History

Asha Deepthi: 12.02.2025

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© CAGS 2025. All rights reserved.