NM_001206999.2:c.376A>C - CAGS

NM_001206999.2:c.376A>C

HGVS Expressions

NG_029792.1:g.24731A>C
NM_001206999.2:c.376A>C
NP_001193928.1:p.Lys126Gln
NC_000012.12:g.119857561T>G

Associated Genes

Citron Rho-Interacting Serine/Threonine Kinase

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Egypt

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
617090.4.1	Egypt	2	NA	Pathogenic	Microcephaly 17, Primary, Autosomal Recessive	Li et al. 2016	Patient from 'family 1379' in the public...
617090.4.2	Egypt	2	NA	Pathogenic	Microcephaly 17, Primary, Autosomal Recessive	Li et al. 2016	Sister of 617090.4.1
617090.4.3	Egypt	2	NA	Pathogenic	Microcephaly 17, Primary, Autosomal Recessive	Li et al. 2016	Cousin of 617090.4.1

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Contributors

Asha Deepthi: 02.11.2022

Edit History

Asha Deepthi: 02.11.2022

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.