NM_000251.3:c.1045C>G - CAGS

NM_000251.3:c.1045C>G

HGVS Expressions

NG_007110.2:g.18275C>G
NM_000251.3:c.1045C>G
NP_000242.1:p.Pro349Ala
NC_000002.12:g.47416398C>G

Associated Genes

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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

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Search:

Subject ID	Country of Origin	CTGA Clinical Significance	Condition(s)	Reference	Remarks
114480.32	Lebanon	Uncertain Significance	Breast Cancer	Jalkh et al, 2017	Patient 'B26' from family 7 in the publi...
114480.53	Lebanon	Uncertain Significance	Breast Cancer	Jalkh et al, 2017	Patient 'B49' from family 24 in the publ...

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Contributors

Asha Deepthi: 15.09.2020

Edit History

Pratibha Nair: 09.11.2022
Asha Deepthi: 26.01.2021
Asha Deepthi: 05.10.2020
Asha Deepthi: 30.09.2020
Asha Deepthi: 15.09.2020

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.