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Details for TNFRSF1A:c.362G>A, p.Arg121Gln

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
6442643	6333477

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.362G>A

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
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Unknown	0.685628	Disease causing

DBSNP ID

7 combinations linked to TNFRSF1A:c.362G>A, p.Arg121Gln

OLI1773; OLI1774; OLI1775; OLI1783; OLI1784; OLI1785; OLI1788

1 disease linked to TNFRSF1A:c.362G>A, p.Arg121Gln

Autoinflammatory syndrome

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