NM_003611.3:c.1193_1196del - CAGS

NM_003611.3:c.1193_1196del

HGVS Expressions

NG_008872.1:g.25498AATC[1]
NM_003611.3:c.1193_1196del
NP_003602.1:p.Gln398LeufsTer2
NC_000023.11:g.13755210AATC[1]

Associated Genes

OFD1 Centriole and Centriolar Satellite Protein

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
311200.1	Saudi Arabia	1	Pathogenic	Orofaciodigital Syndrome I	Maddirevula et al. 2018	Patient's parents are from the same trib...
311200.4	Arab	1	Pathogenic	Orofaciodigital Syndrome I	Del Giudice et al. 2014	Sporadic case

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Contributors

Asha Deepthi: 09.02.2022

Edit History

Asha Deepthi: 25.02.2025
Asha Deepthi: 09.02.2022

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.