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Details for MEFV:c.2084A>G, p.Lys695Arg

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
3293403	3243403

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2084A>G

PROTEIN CHANGE

p.Lys695Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0018	0.0	0.0029	0.0	0.007	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005245	0.0001845	0.001561	0.009127	0.0	0.01626	0.006804	0.00668	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.157052	Disease causing

DBSNP ID

3 combinations linked to MEFV:c.2084A>G, p.Lys695Arg

OLI1753; OLI1777; OLI1784

1 disease linked to MEFV:c.2084A>G, p.Lys695Arg

Autoinflammatory syndrome

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