NM_000128.3:c.1557G>C - CAGS

NM_000128.3:c.1557G>C

HGVS Expressions

NG_008051.1:g.25528G>C
NM_000128.3:c.1557G>C
NP_000119.1:p.Trp519Cys

Associated Genes

Coagulation Factor XI

Back to search Result

Genomic Location

chr4:186286491

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Epidemiology in the Arab World

Lebanon

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
612416.2.1	Lebanon	2		Pathogenic	Factor XI Deficiency	Germanos-Haddad et al, 2005
612416.3.1	Lebanon	2		Pathogenic	Factor XI Deficiency	de Moerloose et al, 2004	Proband
612416.3.2	Lebanon	1		Pathogenic		de Moerloose et al, 2004	Father of 612416.3.1
612416.3.3	Lebanon	1		Pathogenic		de Moerloose et al, 2004	Mother of 612416.3.1
612416.3.4	Lebanon	1		Pathogenic		de Moerloose et al, 2004	Sibling of 612416.3.1
612416.3.5	Lebanon	1		Pathogenic		de Moerloose et al, 2004	Sibling of 612416.3.1
612416.3.6	Lebanon	1		Pathogenic		de Moerloose et al, 2004	Sibling of 612416.3.1

Download Table

Contributors

Sayeeda Hana: 23.03.2020

Edit History

Rahila Mir: 17.02.2022
Sayeeda Hana: 23.03.2020

Back to search Result

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.