NM_000243.3:c.2230G>T - CAGS

NM_000243.3:c.2230G>T

HGVS Expressions

NG_007871.1:g.18371G>T
NM_000243.3:c.2230G>T
NP_000234.1:p.Ala744Ser
NC_000016.10:g.3243257C>A

Associated Genes

MEFV Innate Immunity Regulator, Pyrin

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
134610.1	Lebanon	1		Likely Pathogenic	Familial Mediterranean Fever, Autosomal Dominant	Jalkh et al. 2019
134610.2	United Arab Emirates	1		Pathogenic	Familial Mediterranean Fever, Autosomal Dominant	Fathalla et al. 2021
208230.10	Yemen	1	NA	Pathogenic		Mahfouz et al. 2020
249100.2.3	Lebanon	1		Pathogenic	Familial Mediterranean Fever	Medlej-Hashim et al. 2005
249100.3.1	Jordan	1		Pathogenic	Familial Mediterranean Fever	Medlej-Hashim et al. 2005
249100.16	Lebanon	1		Pathogenic	Familial Mediterranean Fever	Umar et al, 2020
249100.26	Lebanon	1		Pathogenic	Familial Mediterranean Fever	Umar et al, 2020
249100.G.1.4	Lebanon	7	3.4%	Pathogenic	Familial Mediterranean Fever	Sabbagh et al, 2008	Group of patients including 2 homozygote...
249100.G.3.5	Jordan	2	2.4%	Pathogenic	Familial Mediterranean Fever	Medlej-Hashim et al, 2000	Group of 2 heterozygote patients

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Contributors

Sayeeda Hana: 28.07.2020

Edit History

Asha Deepthi: 20.07.2022
Sami Bizzari: 01.02.2022
Sami Bizzari: 27.01.2022
Sayeeda Hana: 16.02.2021
Sayeeda Hana: 15.02.2021
Pratibha Nair: 30.11.2020
Sayeeda Hana: 22.09.2020
Sayeeda Hana: 02.09.2020
Sayeeda Hana: 28.07.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.