NM_020779.4:c.206G>A - CAGS

NM_020779.4:c.206G>A

HGVS Expressions

NG_021212.1:g.12653G>A
NM_020779.4:c.206G>A
NP_065830.2:p.Gly69Asp
NC_000002.12:g.19982471C>T

Associated Genes

WD Repeat-Containing Protein 35

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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
613610.1.1	Saudi Arabia	2	NA	Likely Pathogenic	Cranioectodermal Dysplasia 2	Maddirevula et al. 2018; Maddirevula et al. 2020
613610.1.2	Saudi Arabia	2	NA	Likely Pathogenic	Cranioectodermal Dysplasia 2	Maddirevula et al. 2018; Maddirevula et al. 2020	Sister of 613610.1.1
614091.1	Saudi Arabia	2		Likely Pathogenic	Short-Rib Thoracic Dysplasia 7 with or without Polydactyly	Monies et al. 2017

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Contributors

Asha Deepthi: 24.02.2022

Edit History

Asha Deepthi: 16.10.2024
Asha Deepthi: 24.02.2022

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.