NM_000512.5:c.346G>A - CAGS

NM_000512.5:c.346G>A

HGVS Expressions

NG_008667.1:g.20899G>A
NM_000512.5:c.346G>A
NP_000503.1:p.Gly116Ser
NC_000016.10:g.88841068C>T

Associated Genes

Galactosamine-6-Sulfate Sulfatase

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
253000.2.1	Saudi Arabia	2	NA	Pathogenic	Mucopolysaccharidosis Type IVA	Maddirevula et al. 2018
253000.2.2	Saudi Arabia	2	NA	Pathogenic	Mucopolysaccharidosis Type IVA	Maddirevula et al. 2018	Relative of 253000.2.1
253000.3	Saudi Arabia	2	NA	Pathogenic	Mucopolysaccharidosis Type IVA	Maddirevula et al. 2018

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Contributors

Asha Deepthi: 29.11.2021

Edit History

Asha Deepthi: 29.11.2021

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© CAGS 2025. All rights reserved.