NM_198239.2:c.246del - CAGS

NM_198239.2:c.246del

HGVS Expressions

NG_011748.1:g.12114del
NM_198239.2:c.246del
NP_937882.2:p.Glu84LysfsTer21
NC_000006.12:g.112061188del

Associated Genes

Cellular Communication Network Factor 6

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, 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
208230.4	Saudi Arabia	2	NA	Likely Pathogenic	Progressive Pseudorheumatoid Dysplasia	Hurvitz et al. 1999	Patient from 'Family 4' in the publicati...
208230.5	Saudi Arabia	2	NA	Likely Pathogenic	Progressive Pseudorheumatoid Dysplasia	Hurvitz et al. 1999	Patient from 'Family 5' in the publicati...
208230.6	Jordan	2	NA	Likely Pathogenic	Progressive Pseudorheumatoid Dysplasia	Hurvitz et al. 1999	Patient from 'Family 9' in the publicati...
208230.G.2	Saudi Arabia	6	NA	Pathogenic	Progressive Pseudorheumatoid Dysplasia	Maddirevula et al. 2018	Three related patients

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Contributors

Edit History

Asha Deepthi: 24.02.2022
Asha Deepthi: 15.03.2021
Asha Deepthi: 18.02.2019

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.