NM_015937.6:c.1519C>T - CAGS

NM_015937.6:c.1519C>T

HGVS Expressions

NG_047154.1:g.14542C>T
NM_015937.6:c.1519C>T
NP_057021.2:p.Arg507Trp
NC_000020.11:g.45425608C>T

Associated Genes

Phosphatidylinositol Glycan Anchor Biosynthesis Class T Protein

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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely 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
615398.1	Libya	2	Likely Pathogenic	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ben Ayed et al. 2023

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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.