NM_005881.4:c.556G>A - CAGS

NM_005881.4:c.556G>A

HGVS Expressions

NG_033011.2:g.7029G>A
NM_005881.4:c.556G>A
NP_005872.2:p.Val186Ile
NC_000016.10:g.31110413G>A

Associated Genes

Branched-Chain Alpha-Keto Acid Dehydrogenase Kinase

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Clinvar Clinical Significance

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
614901.G.1	Qatar	234	0.0084	Likely Benign	Devadoss Gandhi et al. 2024	234 individuals from a study of 14,060 Q...
614901.G.2	Qatar	14	0.0084	Likely Benign	Devadoss Gandhi et al. 2024	7 individuals from a study of 14,060 Qat...

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Contributors

Sayeeda Hana: 19.03.2025

Edit History

Sayeeda Hana: 19.03.2025

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© CAGS 2025. All rights reserved.