NM_003705.5:c.1654G>A - CAGS

NM_003705.5:c.1654G>A

HGVS Expressions

NG_011781.2:g.111425G>A
NM_003705.5:c.1654G>A
NP_003696.2:p.Ala552Thr
NC_000002.12:g.171787879C>T

Associated Genes

Solute Carrier Family 25 (Mitochondrial Carrier, Aralar), Member 12

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Clinvar Clinical Significance

Likely Benign

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
603667.G.1	Qatar	33	0.0012	Likely Benign	Devadoss Gandhi et al. 2024	33 individuals from a study of 14,060 Qa...
603667.G.2	Qatar	4	0.0012	Likely Benign	Devadoss Gandhi et al. 2024	2 individuals from a study of 14,060 Qat...

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Contributors

Sayeeda Hana: 16.03.2025

Edit History

Sayeeda Hana: 16.03.2025

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© CAGS 2025. All rights reserved.