NM_001146079.2:c.202C>T - CAGS

NM_001146079.2:c.202C>T

HGVS Expressions

NG_011777.1:g.120076C>T
NM_001146079.2:c.202C>T
NP_001139551.1:p.Arg68Ter
NC_000021.9:g.36461494G>A

Associated Genes

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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
605608.5.1	Syria	2	Likely Pathogenic		Tlili et al. 2024
605608.5.2	Syria	2	Likely Pathogenic		Tlili et al. 2024	Brother of 605608.5.1
605608.5.3	Syria	2	Likely Pathogenic	Deafness, Autosomal Recessive 29	Tlili et al. 2024	Brother of 605608.5.1
605608.5.4	Syria	2	Likely Pathogenic	Deafness, Autosomal Recessive 29	Tlili et al. 2024	Brother of 605608.5.1
605608.5.5	Syria	1			Tlili et al. 2024	Father of 605608.5.1
605608.5.6	Syria	1			Tlili et al. 2024	Mother of 605608.5.1

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Contributors

Sayeeda Hana: 28.02.2025

Edit History

Sayeeda Hana: 28.02.2025

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© CAGS 2025. All rights reserved.