NM_001352514.2:c.2434C>T - CAGS

NM_001352514.2:c.2434C>T

HGVS Expressions

NG_016193.2:g.238837C>T
NM_001352514.2:c.2434C>T
NP_001339443.1:p.Arg812Ter
NC_000021.9:g.36756558G>A

Associated Genes

Holocarboxylase Synthetase

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Clinvar Clinical Significance

Likely Pathogenic, 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	Allele Frequency	CTGA Clinical Significance	Reference	Remarks
609018.G.1	Qatar	2	0.009	Pathogenic	Devadoss Gandhi et al. 2024	2 individuals from a study of 14,060 Qat...

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Contributors

Sayeeda Hana: 15.12.2024

Edit History

Sayeeda Hana: 15.12.2024

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© CAGS 2025. All rights reserved.