NM_017890.4:c.1225G>T - CAGS

NM_017890.4:c.1225G>T

HGVS Expressions

NG_007098.2:g.126385G>T
NM_017890.4:c.1225G>T
NP_060360.3:p.Glu409Ter
NC_000008.11:g.99134650G>T

Associated Genes

Vacuolar Protein Sorting 13, Yeast, Homolog of, B

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

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Search:

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
216550.3.1	Palestine	2	NA	Likely Pathogenic	Cohen Syndrome	Taban, 2007	Patient 'A1' in the publication
216550.3.2	Palestine	2	NA	Likely Pathogenic	Cohen Syndrome	Taban, 2007	Patient 'A2' in the publication, sister ...
216550.3.3	Palestine	2	NA	Likely Pathogenic	Cohen Syndrome	Taban, 2007	Patient 'A3' in the publication, sister ...

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Contributors

Edit History

Asha Deepthi: 16.03.2021
Asha Deepthi: 26.02.2019

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© CAGS 2025. All rights reserved.