NM_004629.1:c.1761-1G>C - CAGS

NM_004629.1:c.1761-1G>C

HGVS Expressions

NG_007312.1:g.10800G>C
NM_004629.1:c.1761-1G>C
NC_000009.12:g.35074217C>G

Associated Genes

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
614082.2.1	Lebanon	2	Pathogenic	Fanconi Anemia, Complementation Group G	de Winter et al. 1998
614082.2.2	Lebanon	2	Pathogenic	Fanconi Anemia, Complementation Group G	de Winter et al. 1998	Sibling of 614082.2.1

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Contributors

Pratibha Nair: 28.04.2021

Edit History

Pratibha Nair: 28.04.2021

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© CAGS 2025. All rights reserved.