NM_030957.3:c.709C>T - CAGS

NM_030957.3:c.709C>T

HGVS Expressions

NG_011840.2:g.14674C>T
NM_030957.3:c.709C>T
NP_112219.3:p.Arg237Ter
NC_000019.10:g.8601029G>A

Associated Genes

A Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif, 10

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Lebanon

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
277600.1.1	Lebanon	2		Pathogenic	Weill-Marchesani Syndrome, Autosomal Recessive	Dagoneau et al. 2004	Sibling of 277600.1.2; First degree cous...
277600.1.2	Lebanon	2		Pathogenic	Weill-Marchesani Syndrome, Autosomal Recessive	Dagoneau et al. 2004	Sibling of 277600.1.1; First degree cous...
277600.1.3	Lebanon	2		Pathogenic	Weill-Marchesani Syndrome, Autosomal Recessive	Dagoneau et al. 2004	First degree cousin of 277600.1.1 and 27...

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Contributors

Pratibha Nair: 31.05.2018

Edit History

Pratibha Nair: 12.10.2022
Pratibha Nair: 26.12.2018

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.