NM_018972.4:c.581C>G - CAGS

NM_018972.4:c.581C>G

HGVS Expressions

NG_008787.3:g.46811C>G
NM_018972.4:c.581C>G
NP_061845.2:p.Ser194Ter
NC_000008.11:g.74362940C>G

Associated Genes

Ganglioside-Induced Differentiation-Associated Protein 1

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

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
214400.3.1	Morocco	2	NA	Pathogenic	Charcot-Marie-Tooth Disease, Type 4A	Birouk et al. 2003
214400.3.2	Morocco	1	NA			Birouk et al. 2003	Father of 214400.3.1
214400.3.3	Morocco	1	NA			Birouk et al. 2003	Mother of 214400.3.1
214400.3.4	Morocco	1	NA			Birouk et al. 2003	Brother of 214400.3.1
214400.3.5	Morocco	1	NA			Birouk et al. 2003	Sister of 214400.3.1
214400.3.6	Morocco	1	NA			Birouk et al. 2003	Brother of 214400.3.1
214400.3.7	Morocco	1	NA			Birouk et al. 2003	Sister of 214400.3.1
214400.3.8	Morocco	2	NA	Pathogenic	Charcot-Marie-Tooth Disease, Type 4A	Birouk et al. 2003	First cousin of 214400.3.1
214400.3.9	Morocco	2	NA	Pathogenic	Charcot-Marie-Tooth Disease, Type 4A	Birouk et al. 2003	First cousin of 214400.3.1
214400.3.10	Morocco	2	NA	Pathogenic	Charcot-Marie-Tooth Disease, Type 4A	Birouk et al. 2003	First cousin of 214400.3.1
214400.3.11	Morocco	1	NA			Birouk et al. 2003	Relative of 214400.3.1
214400.3.12	Morocco	1	NA			Birouk et al. 2003	Relative of 214400.3.1
214400.3.13	Morocco	1	NA			Birouk et al. 2003	First cousin of 214400.3.1
214400.G.1.2	Tunisia	2	NA	Pathogenic	Charcot-Marie-Tooth Disease, Type 4A	Baxter et al. 2002	Unknown number of patients from 'DUK 140...

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Contributors

Edit History

Asha Deepthi: 04.03.2021
Asha Deepthi: 10.02.2019

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.