Alpha NM_199161.5:c.[209C>T;224T>C] - CAGS

Alpha NM_199161.5:c.[209C>T;224T>C]

HGVS Expressions

NG_021330.1:g.[8052C>T;8067T>C]
Alpha NM_199161.5:c.[209C>T;224T>C]
NP_954630.2:p.[Ala70Val;Val75Ala]
NC_000011.10:g.[18269312C>T;18269327T>C]

Associated Genes

Serum Amyloid A1

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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Haplotype

dbSNP

1136743 1136747

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
249100.G.7.1	Jordan; Lebanon	2		Likely Pathogenic	Familial Mediterranean Fever	Medlej-Hashim et al. 2004	Group of 11 FMF patients with Amyloidosi...
249100.G.7.2	Jordan; Lebanon	2		Likely Pathogenic	Familial Mediterranean Fever	Medlej-Hashim et al. 2004	Group of 10 FMF patients without Amyloid...
249100.G.7.3	Jordan; Lebanon	1		Likely Pathogenic	Familial Mediterranean Fever	Medlej-Hashim et al. 2004	Group of 16 FMF patients with Amyloidosi...
249100.G.7.4	Jordan; Lebanon	1		Likely Pathogenic	Familial Mediterranean Fever	Medlej-Hashim et al. 2004	Group of 15 FMF patients without Amyloid...

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Contributors

Sayeeda Hana: 18.02.2021

Edit History

Sayeeda Hana: 22.02.2021
Sayeeda Hana: 18.02.2021

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.