NM_014043.4:c.85A>G - CAGS

NM_014043.4:c.85A>G

HGVS Expressions

NG_007885.1:g.18487A>G
NM_014043.4:c.85A>G
NP_054762.2:p.Ile29Val
NC_000003.12:g.87240749A>G

Associated Genes

Charged Multivesicular Body Protein 2B

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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

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
600795.1	Saudi Arabia	1	Likely Pathogenic	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7	Monies et al. 2017

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Contributors

Asha Deepthi: 18.01.2025

Edit History

Asha Deepthi: 18.01.2025

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© CAGS 2025. All rights reserved.