NM_017890.4:c.7934G>A - CAGS

NM_017890.4:c.7934G>A

HGVS Expressions

NG_007098.2:g.776129G>A
NM_017890.4:c.7934G>A
NP_060360.3:p.Gly2645Asp
NC_000008.11:g.99784394G>A

Associated Genes

Vacuolar Protein Sorting 13, Yeast, Homolog of, B

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
216550.1.1	Oman	2	Pathogenic	Cohen Syndrome	Hennies et al. 2004	Sibling of 216550.1.2 and 216550.1.3
216550.1.2	Oman	2	Pathogenic	Cohen Syndrome	Hennies et al. 2004	Sibling of 216550.1.1 and 216550.1.3
216550.1.3	Oman	2	Pathogenic	Cohen Syndrome	Hennies et al. 2004	Sibling of 216550.1.1 and 216550.1.2

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Contributors

Pratibha Nair: 06.12.2018

Edit History

Pratibha Nair: 12.10.2022
Pratibha Nair: 24.12.2018
Pratibha Nair: 06.12.2018

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© CAGS 2025. All rights reserved.