NM_000392.5:c.2273G>T - CAGS

NM_000392.5:c.2273G>T

HGVS Expressions

NG_011798.2:g.41194G>T
NM_000392.5:c.2273G>T
NP_000383.2:p.Gly758Val
NC_000010.11:g.99818791G>T

Associated Genes

ATP-Binding Cassette, Subfamily C, Member 2

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Saudi Arabia

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
237500.1	Saudi Arabia	2		Likely Pathogenic	Dubin-Johnson Syndrome	Monies et al. 2017

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Contributors

Asha Deepthi: 28.11.2024

Edit History

Asha Deepthi: 28.11.2024

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.