NM_032193.4:c.205C>T - CAGS

NM_032193.4:c.205C>T

HGVS Expressions

NG_008976.2:g.5554C>T
NM_032193.4:c.205C>T
NP_115569.2:p.Arg69Trp
NC_000011.10:g.65720385G>A

Associated Genes

Ribonuclease H2, Subunit C

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

United Arab Emirates

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Search:

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
610329.1.1	United Arab Emirates	2	Pathogenic	Aicardi-Goutieres Syndrome 3	Al-Shamsi et al. 2016
610330.G.1	Arab	4	Pathogenic	Aicardi-Goutieres Syndrome 3	Al Mutairi et al. 2018	2 unrelated Arab patients

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Contributors

Pratibha Nair: 06.07.2020

Edit History

Sayeeda Hana: 27.11.2022
Pratibha Nair: 24.08.2022
Pratibha Nair: 23.08.2022
Pratibha Nair: 06.07.2020

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.