NM_006772.3:c.739C>T - CAGS

NM_006772.3:c.739C>T

HGVS Expressions

NG_016137.2:g.20521C>T
NM_006772.3:c.739C>T
NP_006763.2:p.Gln247Ter
NC_000006.12:g.33435590C>T

Associated Genes

Synaptic Ras-GTPase-Activating Protein 1

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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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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
612621.2	Saudi Arabia	1	Likely Pathogenic	Intellectual Developmental Disorder, Autosomal Dominant 5	Monies et al. 2017

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Contributors

Asha Deepthi: 02.11.2024

Edit History

Asha Deepthi: 02.11.2024

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© CAGS 2025. All rights reserved.