NM_001352514.2:c.2615G>A - CAGS

NM_001352514.2:c.2615G>A

HGVS Expressions

NG_016193.2:g.241142G>A
NM_001352514.2:c.2615G>A
NP_001339443.1:p.Arg872Gln
NC_000021.9:g.36754253C>T

Associated Genes

Holocarboxylase Synthetase

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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

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	Reference	Remarks
609018.G.3	Qatar	140	0.0049	Likely Benign	Devadoss Gandhi et al. 2024	140 individuals from a study of 14,060 Q...
609018.G.4	Qatar	4	0.0049	Likely Benign	Devadoss Gandhi et al. 2024	2 individuals from a study of 14,060 Qat...

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Contributors

Sayeeda Hana: 14.03.2025

Edit History

Sayeeda Hana: 14.03.2025

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© CAGS 2025. All rights reserved.