NM_022356.4:c.1839-2A>C - CAGS

NM_022356.4:c.1839-2A>C

HGVS Expressions

NG_008123.1:g.24285A>C
NM_022356.4:c.1839-2A>C
NC_000001.11:g.42747800T>G

Associated Genes

Prolyl 3-Hydroxylase 1

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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

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
610915.2.1	Saudi Arabia	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018
610915.2.2	Saudi Arabia	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018	Relative of 610915.2.1
610915.4	Arab	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018

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Contributors

Asha Deepthi: 30.12.2021

Edit History

Asha Deepthi: 30.12.2021

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© CAGS 2025. All rights reserved.