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Details for LRP2:p.Asn3205Asp

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
170042245	169185735

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Asn3205Asp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0018	0.0	0.0043	0.0	0.006	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003887	0.0008002	0.001533	0.001787	0.0	0.01674	0.004099	0.005561	0.001013

ESP
AA	EA
0.0004539	0.004884

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.98276	Polymorphism

DBSNP ID

1 combination linked to LRP2:p.Asn3205Asp

1 disease linked to LRP2:p.Asn3205Asp

Holoprosencephaly

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