NM_173076.3:c.3470C>T - CAGS

NM_173076.3:c.3470C>T

HGVS Expressions

NG_007074.1:g.152572C>T
NM_173076.3:c.3470C>T
NP_775099.2:p.Ser1157Leu

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 12

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Genomic Location

chr2:214990856

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Epidemiology in the Arab World

Saudi Arabia

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
601277.3.1	Saudi Arabia	2		Pathogenic	Ichthyosis, Congenital, Autosomal Recessive 4A	Wakil et al. 2016	Index patient
601277.3.2	Saudi Arabia	2		Pathogenic	Ichthyosis, Congenital, Autosomal Recessive 4A	Wakil et al. 2016	Brother of 601277.3.1
601277.3.3	Saudi Arabia	2		Pathogenic	Ichthyosis, Congenital, Autosomal Recessive 4A	Wakil et al. 2016	Brother of 601277.3.1
601277.3.4	Saudi Arabia	2		Pathogenic	Ichthyosis, Congenital, Autosomal Recessive 4A	Wakil et al. 2016	First cousin of 601277.3.1
601277.3.5	Saudi Arabia	1				Wakil et al. 2016	Father of 601277.3.1
601277.3.6	Saudi Arabia	1				Wakil et al. 2016	Mother of 601277.3.1

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Contributors

Sayeeda Hana: 31.08.2020

Edit History

Rahila Mir: 17.02.2022
Sayeeda Hana: 31.08.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.