NM_003995.3:c.2869C>T - CAGS

NM_003995.3:c.2869C>T

HGVS Expressions

NG_009249.1:g.21257C>T
NM_003995.3:c.2869C>T
NP_003986.2:p.Arg957Cys
NC_000009.12:g.35808665C>T

Associated Genes

Natriuretic Peptide Receptor 2

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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Benign, Likely Pathogenic

Variant Type

Substitution

Clinvar

Epidemiology in the Arab World

Oman

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
602875.1.1	Oman	2		Likely Pathogenic	Acromesomelic Dysplasia, Maroteaux Type	Bartels et al. 2004	passed away at a few months of age.
602875.1.2	Oman	2		Likely Pathogenic	Acromesomelic Dysplasia, Maroteaux Type	Bartels et al. 2004	sibling of 602875.1.1
602875.1.3	Oman	2		Likely Pathogenic	Acromesomelic Dysplasia, Maroteaux Type	Bartels et al. 2004	sibling of 602875.1.1
602875.1.4	Oman	1		Benign		Bartels et al. 2004	mother of 602875.1.1
602875.1.5	Oman	1		Benign		Bartels et al. 2004	Father of 602875.1.1

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Contributors

Sami Bizzari: 05.05.2020

Edit History

Pratibha Nair: 21.11.2022
Rahila Mir: 14.02.2022
Sayeeda Hana: 04.10.2020
Sami Bizzari: 07.05.2020
Sami Bizzari: 05.05.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.