NM_022356.4:c.570_571del - CAGS

NM_022356.4:c.570_571del

HGVS Expressions

NG_008123.1:g.9714_9715del
NM_022356.4:c.570_571del
NP_071751.3:p.Gly191SerfsTer10
NC_000001.11:g.42762370_42762371del

Associated Genes

Prolyl 3-Hydroxylase 1

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Clinvar Clinical Significance

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	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
610915.7	Saudi Arabia	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018
147557.G.1	Saudi Arabia	2				Monies et al. 2017	Couple with heterozygous variants in ITG...

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Contributors

Asha Deepthi: 30.12.2021

Edit History

Asha Deepthi: 15.11.2024
Asha Deepthi: 30.12.2021

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.