NM_017990.5:c.1360G>T - CAGS

NM_017990.5:c.1360G>T

HGVS Expressions

NG_052842.1:g.33653G>T
NM_017990.5:c.1360G>T
NP_060460.4:p.Gly454Cys
NC_000016.10:g.70142278G>T

Associated Genes

Pyruvate Dehydrogenase Phosphatase Regulatory Subunit

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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Saudi Arabia

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
213300.3.1	Saudi Arabia	2		Likely Pathogenic	Joubert Syndrome 1	Alazami et al. 2015
213300.3.2	Saudi Arabia	2		Likely Pathogenic	Joubert Syndrome 1	Alazami et al. 2015	Brother of 213300.3.1

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Contributors

Pratibha Nair: 09.05.2023

Edit History

Pratibha Nair: 09.05.2023

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.