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Details for TNFRSF1A:c.434A>G, p.Asn145Ser

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
6442571	6333405

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.434A>G

PROTEIN CHANGE

p.Asn145Ser

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
9.178e-05	0.0	8.697e-05	0.0	0.0	0.0	0.0001677	0.0	3.274e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Unknown	1.236584	Polymorphism

DBSNP ID

1 combination linked to TNFRSF1A:c.434A>G, p.Asn145Ser

1 disease linked to TNFRSF1A:c.434A>G, p.Asn145Ser

Autoinflammatory syndrome

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