NM_015937.6:c.1079G>T - CAGS

NM_015937.6:c.1079G>T

HGVS Expressions

NG_047154.1:g.10362G>T
NM_015937.6:c.1079G>T
NP_057021.2:p.Gly360Val
NC_000020.11:g.45421428G>T

Associated Genes

Phosphatidylinositol Glycan Anchor Biosynthesis Class T Protein

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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
615398.2.1	Somalia	2	Pathogenic	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ben Ayed et al. 2023; Bayat et al. 2019
615398.2.2	Somalia	2	Pathogenic	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ben Ayed et al. 2023; Bayat et al. 2019	Brother of 615398.2.1

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Contributors

Sayeeda Hana: 07.01.2025

Edit History

Sayeeda Hana: 07.01.2025

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© CAGS 2025. All rights reserved.