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Details for LRP1B:c.1907G>A,

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
141777554	141019985

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1907G>A

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0024	0.0	0.0058	0.002	0.006	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002011	0.0009867	0.003811	0.0	0.0001643	0.00227	0.002468	0.003449	0.0001309

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.308915	Polymorphism

DBSNP ID

1 combination linked to LRP1B:c.1907G>A,

1 disease linked to LRP1B:c.1907G>A,

Primary immunodeficiency

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