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Details for LRBA:p.Asn2364Ser

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
151336693	150415541

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Asn2364Ser

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
3.984e-06	0.0	0.0	0.0	0.0	0.0	8.81e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.640203	Disease causing

DBSNP ID

1 combination linked to LRBA:p.Asn2364Ser

1 disease linked to LRBA:p.Asn2364Ser

Common variable immunodeficiency

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