NM_005529.7:c.11208-7G>A - CAGS

NM_005529.7:c.11208-7G>A

HGVS Expressions

NG_016740.1:g.110455G>A
NM_005529.7:c.11208-7G>A
NC_000001.11:g.21831803C>T

Associated Genes

Heparan Sulfate Proteoglycan of Basement Membrane

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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
142461.1	Saudi Arabia	2		Likely Pathogenic		Monies et al. 2017
255800.2	Saudi Arabia	2		Likely Pathogenic	Schwartz-Jampel Syndrome, Type 1	Maddirevula et al. 2018

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Contributors

Asha Deepthi: 20.12.2021

Edit History

Asha Deepthi: 11.11.2024
Asha Deepthi: 20.12.2021

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.