NM_201525.4:c.1952G>A - CAGS

NM_201525.4:c.1952G>A

HGVS Expressions

NG_011643.1:g.48473G>A
NM_201525.4:c.1952G>A
NP_958933.1:p.Trp651Ter
NC_000016.10:g.57663470G>A

Associated Genes

G Protein-Coupled Receptor 56

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

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Search:

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
606854.1.1	Jordan	2	Likely Pathogenic	Polymicrogyria, Bilateral Frontoparietal	Reuter et al. 2017
606854.1.2	Jordan	2	Likely Pathogenic	Polymicrogyria, Bilateral Frontoparietal	Reuter et al. 2017	Relative of 606854.1.1

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Contributors

Sayeeda Hana: 07.09.2024

Edit History

Sayeeda Hana: 25.09.2024
Sayeeda Hana: 09.09.2024
Sayeeda Hana: 07.09.2024

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.