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Details for LRP4:c.5560C>G, p.Ser1887Cys

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
46880592	46859041

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.5560C>G

PROTEIN CHANGE

p.Ser1887Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0043	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001103	0.0003076	0.001475	0.0004962	0.0	4.624e-05	0.001814	0.001468	0.0

ESP
AA	EA
0.0004543	0.001512

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.723576	Polymorphism

DBSNP ID

1 combination linked to LRP4:c.5560C>G, p.Ser1887Cys

1 disease linked to LRP4:c.5560C>G, p.Ser1887Cys

46,XY disorder of sex development

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