NM_004004.5:c.109G>A - CAGS

NM_004004.5:c.109G>A

HGVS Expressions

NG_008358.1:g.8503G>A
NM_004004.5:c.109G>A
NP_003995.2:p.Val37Ile
NC_000013.11:g.20189473C>T

Associated Genes

Gap Junction Protein, Beta-2

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Clinvar Clinical Significance

Benign, Likely Benign, Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
220290.5	Egypt	1	NA	Likely Pathogenic	Deafness, Autosomal Recessive 1A	Snoeckx et al. 2005
220290.6.1	Egypt	2	NA	Likely Pathogenic	Deafness, Autosomal Recessive 1A	Snoeckx et al. 2005
220290.6.2	Egypt	1	NA	Likely Pathogenic	Deafness, Autosomal Recessive 1A	Snoeckx et al. 2005	Sister of 220290.6.1
220290.G.4.5	Algeria	1	NA	Likely Pathogenic, Pathogenic	Deafness, Autosomal Recessive 1A	Ammar-Khodja et al. 2009	Unknown number of patients from an Alger...
220290.G.4.6	Algeria	2	NA	Likely Pathogenic, Pathogenic	Deafness, Autosomal Recessive 1A	Ammar-Khodja et al. 2009	Unknown number of patients from an Alger...

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Contributors

Edit History

Asha Deepthi: 11.03.2021
Asha Deepthi: 28.01.2019

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.