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Details for MEFV:c.2080A>G, p.Met694Val

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
3293407	3243407

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2080A>G

PROTEIN CHANGE

p.Met694Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002823	6.152e-05	0.0002602	0.0	0.0	0.0	0.0004835	0.0009775	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.633726	Disease causing

DBSNP ID

1 combination linked to MEFV:c.2080A>G, p.Met694Val

1 disease linked to MEFV:c.2080A>G, p.Met694Val

Autoinflammatory syndrome

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