NM_022356.4:c.2056-1G>A - CAGS

NM_022356.4:c.2056-1G>A

HGVS Expressions

NG_008123.1:g.25232G>A
NM_022356.4:c.2056-1G>A
NC_000001.11:g.42746853C>T

Associated Genes

Prolyl 3-Hydroxylase 1

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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

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
610915.3	Oman	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Shaheen et al. 2012; Maddirevula et al. 2018
610915.5.1	Oman	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018
610915.5.2	Oman	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018	Relative of 610915.5.1
610915.5.3	Oman	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018	Relative of 610915.5.1
610915.6	Oman	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018

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Contributors

Asha Deepthi: 30.12.2021

Edit History

Rahila Mir: 14.02.2022
Asha Deepthi: 30.12.2021

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.