NM_058172.5:c.1074delT - CAGS

NM_058172.5:c.1074delT

HGVS Expressions

NG_015987.1:g.93493delT
NM_058172.5:c.1074delT
NP_477520.2:p.Ala359Hisfs
NC_000004.12:g.79984831del

Associated Genes

Anthrax Toxin Receptor 2

Back to search Result

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
228600.1.1	Egypt	2		Pathogenic	Hyaline Fibromatosis Syndrome	El-Kamah et al. 2010	Sibling of 228600.1.2 & 228600.1.3
228600.1.2	Egypt	2		Pathogenic	Hyaline Fibromatosis Syndrome	El-Kamah et al. 2010	Sibling of 228600.1.1 & 228600.1.3
228600.1.3	Egypt	2		Pathogenic		El-Kamah et al. 2010	Sibling of 228600.1.1 & 228600.1.2
228600.4.1	Kuwait	2		Pathogenic	Hyaline Fibromatosis Syndrome	Hanks et al. 2003; Glover et al, 1991
228600.4.2	Kuwait	2		Pathogenic	Hyaline Fibromatosis Syndrome	Hanks et al. 2003; Glover et al, 1991	Sibling of 228600.4.1
228600.9	Saudi Arabia	2	NA	Pathogenic	Hyaline Fibromatosis Syndrome	Maddirevula et al. 2018

Download Table

Contributors

Pratibha Nair: 18.07.2019

Edit History

Asha Deepthi: 24.10.2021
Pratibha Nair: 18.07.2019

Back to search Result

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.