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Details for MEFV:c.2177T>C, p.Val726Ala

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
3293310	3243310

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2177T>C

PROTEIN CHANGE

p.Val726Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002167	0.0	0.0002313	0.03979	0.0	0.0	0.0009318	0.004399	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.598378	Disease causing

DBSNP ID

2 combinations linked to MEFV:c.2177T>C, p.Val726Ala

OLI1786; OLI1787

1 disease linked to MEFV:c.2177T>C, p.Val726Ala

Autoinflammatory syndrome

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