NM_173591.3:c.2773C>T - CAGS

NM_173591.3:c.2773C>T

HGVS Expressions

NG_033008.1:g.74586C>T
NM_173591.3:c.2773C>T
NP_775862.3:p.Arg925Ter

Associated Genes

Otogelin-Like Protein

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Genomic Location

chr12:80279038

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Epidemiology in the Arab World

Syria

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
614944.1.1	Syria	2		Pathogenic	Deafness, Autosomal Recessive 84B	Barake et al, 2017	Proband
614944.1.2	Syria	2		Pathogenic	Deafness, Autosomal Recessive 84B	Barake et al, 2017	Sister of 614944.1.1
614944.1.3	Syria	2		Pathogenic	Deafness, Autosomal Recessive 84B	Barake et al, 2017	Sister of 614944.1.1
614944.1.4	Syria	2		Pathogenic	Deafness, Autosomal Recessive 84B	Barake et al, 2017	Sister of 614944.1.1
614944.1.5	Syria	2		Pathogenic	Deafness, Autosomal Recessive 84B	Barake et al, 2017	Brother of 614944.1.1
614944.1.6	Syria	1		Pathogenic		Barake et al, 2017	Unaffected father of 614944.1.1
614944.1.7	Syria	1		Pathogenic		Barake et al, 2017	Unaffected mother of 614944.1.1

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Contributors

Sayeeda Hana: 06.07.2019

Edit History

Rahila Mir: 17.02.2022
Sayeeda Hana: 06.07.2019

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.