NM_001378183.1:c.273_279del - CAGS

NM_001378183.1:c.273_279del

HGVS Expressions

NG_034005.1:g.174215_174221del
NM_001378183.1:c.273_279del
NP_001365112.1:p.Pro92ThrfsTer18
NC_000018.10:g.10979544_10979550del

Associated Genes

Piezo-Type Mechanosensitive Ion Channel Component 2

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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

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
617146.1	Saudi Arabia	2	Likely Pathogenic	Arthrogryposis, Distal, with Impaired Proprioception and Touch	Monies et al. 2017

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Contributors

Asha Deepthi: 22.01.2025

Edit History

Asha Deepthi: 22.01.2025

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© CAGS 2025. All rights reserved.