NM_004646.3:c.1170+2T>C - CAGS

NM_004646.3:c.1170+2T>C

HGVS Expressions

NG_013356.2:g.25653T>C
NM_004646.3:c.1170+2T>C

Associated Genes

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Genomic Location

chr19:35848635

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
256300.3.1	Tunisia	2	Pathogenic	Nephrotic Syndrome, Type 1	Mbarek et al. 2011
256300.3.2	Tunisia	2	Pathogenic	Nephrotic Syndrome, Type 1	Mbarek et al. 2011	Brother of 256300.3.1

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Contributors

Sayeeda Hana: 24.11.2019

Edit History

Rahila Mir: 17.02.2022
Sayeeda Hana: 24.11.2019

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.