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Details for MEFV:c.622A>T, p.Ser208Cys

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
3304446	3254446

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.622A>T

PROTEIN CHANGE

p.Ser208Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.668109	Polymorphism

DBSNP ID

1 combination linked to MEFV:c.622A>T, p.Ser208Cys

1 disease linked to MEFV:c.622A>T, p.Ser208Cys

Autoinflammatory syndrome

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