NM_000512.5:c.319G>A - CAGS

NM_000512.5:c.319G>A

HGVS Expressions

NG_008667.1:g.20070G>A
NM_000512.5:c.319G>A
NP_000503.1:p.Ala107Thr
NC_000016.10:g.88841897C>T

Associated Genes

Galactosamine-6-Sulfate Sulfatase

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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

United Arab Emirates

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
253000.G.1	United Arab Emirates	4	Pathogenic	Mucopolysaccharidosis Type IVA	Al-Jasmi et al. 2013	2 Emirati siblings

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Contributors

Sayeeda Hana: 25.09.2021

Edit History

Sami Bizzari: 03.06.2022
Rahila Mir: 09.02.2022
Sayeeda Hana: 26.09.2021
Sayeeda Hana: 25.09.2021

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.