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Details for TIRAP:p.Asp96Asn

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
126162590	126292695

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Asp96Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0	0.0029	0.0	0.002	0.0031

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002764	0.0002485	0.002116	0.01185	5.448e-05	0.0001864	0.002763	0.003449	0.005141

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.842241	Polymorphism

DBSNP ID

1 combination linked to TIRAP:p.Asp96Asn

1 disease linked to TIRAP:p.Asp96Asn

Common variable immunodeficiency

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