NM_000129.3:c.1475_1476delGA - CAGS

NM_000129.3:c.1475_1476delGA

HGVS Expressions

NG_008107.1:g.150840_150841delGA
NM_000129.3:c.1475_1476delGA
NP_000120.2:p.Arg492Ilefs*12

Associated Genes

Factor XIII, A1 Subunit

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Genomic Location

chr6:6174851-6174852

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

Lebanon

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
613225.1.1	Lebanon	2		Pathogenic	Factor XIII, A Subunit, Deficiency of	Khalife et al, 2008
613225.2.1	Lebanon	2		Pathogenic	Factor XIII, A Subunit, Deficiency of	Farah et al, 2014	Proband
613225.2.2	Lebanon	2		Pathogenic	Factor XIII, A Subunit, Deficiency of	Farah et al, 2014	Brother of 613225.2.1
613225.2.3	Lebanon	1		Pathogenic		Farah et al, 2014	Father of 613225.2.1
613225.2.4	Lebanon	1		Pathogenic		Farah et al, 2014	Mother of 613225.2.1
613225.2.5	Lebanon	1		Pathogenic		Farah et al, 2014	Sister of 613225.2.1
613225.4.1	Lebanon	2		Pathogenic	Factor XIII, A Subunit, Deficiency of	El Rassy et al, 2015

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Contributors

Sayeeda Hana: 27.03.2020

Edit History

Rahila Mir: 17.02.2022
Sayeeda Hana: 30.03.2020
Sayeeda Hana: 27.03.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.