NM_005431.2:c.643C>T - CAGS

NM_005431.2:c.643C>T

HGVS Expressions

NG_027988.2:g.32324C>T
NM_005431.2:c.643C>T
NP_005422.1:p.Arg215Ter
NC_000007.14:g.152648842G>A

Associated Genes

X-Ray Repair Cross Complementing 2

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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
617247.1	Saudi Arabia	2	Pathogenic	Fanconi Anemia, Complementation Group U	Maddirevula et al. 2019	Similarly affected sibling
617247.2	Saudi Arabia	2	Pathogenic	Fanconi Anemia, Complementation Group U	Shamseldin et al. 2012
617247.3	Saudi Arabia	2	Likely Pathogenic	Fanconi Anemia, Complementation Group U	Alhathal et al. 2020	Limited evidence of Fanconi Anemia

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Contributors

Pratibha Nair: 17.10.2022

Edit History

Pratibha Nair: 07.03.2023
Pratibha Nair: 17.10.2022

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© CAGS 2025. All rights reserved.