NM_005041.5:c.272C>T - CAGS

NM_005041.5:c.272C>T

HGVS Expressions

NG_009615.1:g.7145C>T
NM_005041.5:c.272C>T
NP_005032.2:p.Ala91Val
NC_000010.11:g.70600631G>A

Associated Genes

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Clinvar Clinical Significance

Benign, Likely Benign, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

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
249100.5	Lebanon	1		Uncertain Significance		Umar et al, 2020
249100.14	Lebanon	1		Uncertain Significance		Umar et al, 2020
249100.22	Lebanon	1		Uncertain Significance	Familial Mediterranean Fever	Umar et al, 2020

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Contributors

Sayeeda Hana: 03.02.2021

Edit History

Sayeeda Hana: 17.02.2021
Sayeeda Hana: 16.02.2021
Sayeeda Hana: 15.02.2021
Sayeeda Hana: 13.02.2021
Sayeeda Hana: 03.02.2021

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.