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Details for TFRC:p.Asp70Ala

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
195792457	196065586

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Asp70Ala

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
4.148e-05	0.0	0.0	0.0	0.0005631	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.161752	Polymorphism

DBSNP ID

1 combination linked to TFRC:p.Asp70Ala

1 disease linked to TFRC:p.Asp70Ala

Common variable immunodeficiency

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