NM_182760.4:c.785A>G - CAGS

NM_182760.4:c.785A>G

HGVS Expressions

NG_016225.2:g.55100A>G
NM_182760.4:c.785A>G
NP_877437.2:p.Gln262Arg
NC_000003.12:g.4417183T>C

Associated Genes

Sulfatase-Modifying Factor 1

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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
272200.3	Saudi Arabia	2		Likely Pathogenic	Multiple Sulfatase Deficiency	Monies et al. 2019
272200.4	Saudi Arabia	2		Likely Pathogenic	Multiple Sulfatase Deficiency	Monies et al. 2019

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Contributors

Pratibha Nair: 18.12.2023

Edit History

Pratibha Nair: 18.12.2023

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.