NM_177400.3:c.196del - CAGS

NM_177400.3:c.196del

HGVS Expressions

NM_177400.3:c.196del
NP_796374.1:p.Arg66GlyfsTer122
NC_000010.11:g.132785754del

Associated Genes

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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
617560.1	Saudi Arabia	2		Likely Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	Baldi et al. 2018	Proband from 'family 1' in the publicati...
617560.2	Kuwait	2		Likely Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	Baldi et al. 2018	Proband from 'family 2' in the publicati...
617560.3.1	Saudi Arabia	2		Likely Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	Baldi et al. 2018	Proband from 'family 3' in the publicati...
617560.3.2	Saudi Arabia	2		Likely Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	Baldi et al. 2018	Brother of 617560.3.1

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Contributors

Asha Deepthi: 27.04.2021

Edit History

Asha Deepthi: 27.04.2021

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© CAGS 2024. All rights reserved.