NM_016239.4:c.1634C>T - CAGS

NM_016239.4:c.1634C>T

HGVS Expressions

NG_011634.1:g.16729C>T
NM_016239.4:c.1634C>T
NP_057323.3:p.Ala545Val

Associated Genes

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Genomic Location

chr17:18120434

Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Lebanon

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
600316.2	Lebanon	1		Likely Pathogenic	Deafness, Autosomal Recessive 3	Jalkh et al. 2019	Compound heterozygous

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Contributors

Edit History

Pratibha Nair: 26.10.2020

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© CAGS 2024. All rights reserved.