NM_177400.3:c.487C>G - CAGS

NM_177400.3:c.487C>G

HGVS Expressions

NM_177400.3:c.487C>G
NP_796374.1:p.Leu163Val
NC_000010.11:g.132785372G>C

Associated Genes

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
617560.4.1	Oman	2		Likely Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	Baldi et al. 2018	Proband from 'family 4' in the publicati...
617560.4.2	Oman	2		Likely Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	Baldi et al. 2018	Brother of 617560.4.1
617560.5.1	Saudi Arabia	2		Likely Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	Baldi et al. 2018	Proband from 'family 5' in the publicati...
617560.5.2	Saudi Arabia	2		Likely Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	Baldi et al. 2018	Sister of 617560.5.1
617560.7.1	Saudi Arabia	2	NA	Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	Chelban et al. 2017	Patient from 'family 3' in the publicati...
617560.7.2	Saudi Arabia	2	NA	Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	Chelban et al. 2017	Brother of 617560.7.1

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Contributors

Asha Deepthi: 27.04.2021

Edit History

Asha Deepthi: 26.10.2022
Asha Deepthi: 27.04.2021

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.