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Details for TNFRSF13B:c.310T>C, p.Cys104Arg

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
16852187	16948873

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.310T>C

PROTEIN CHANGE

p.Cys104Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0018	0.0	0.0058	0.0	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003495	0.001661	0.00425	0.00248	0.0	0.001109	0.005441	0.004723	0.0002613

ESP
AA	EA
0.001816	0.005349

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.689584	Disease causing

DBSNP ID

1 combination linked to TNFRSF13B:c.310T>C, p.Cys104Arg

1 disease linked to TNFRSF13B:c.310T>C, p.Cys104Arg

Common variable immunodeficiency

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