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Details for TNFRSF1A:p.Arg121Gln

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
6442643	6333477

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg121Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.006	0.0015	0.013	0.0	0.0189	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01318	0.003077	0.009022	0.01766	0.0	0.01128	0.02029	0.01808	0.003627

ESP
AA	EA
0.004539	0.0186

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.685628	Disease causing

DBSNP ID

1 combination linked to TNFRSF1A:p.Arg121Gln

1 disease linked to TNFRSF1A:p.Arg121Gln

Familial Mediterranean fever

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