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Details for MEFV:c.442G>A, p.Glu148Gln

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
3304626	3254626

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.442G>A

PROTEIN CHANGE

p.Glu148Gln

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.511821	Polymorphism

DBSNP ID

5 combinations linked to MEFV:c.442G>A, p.Glu148Gln

OLI1750; OLI1752; OLI1754; OLI1756; OLI1789

1 disease linked to MEFV:c.442G>A, p.Glu148Gln

Autoinflammatory syndrome

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