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Details for CUBN:c.3356T>C, p.Leu1119Ser

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
17088067	17046068

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.3356T>C

PROTEIN CHANGE

p.Leu1119Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001246	0.0001846	0.000463	9.927e-05	0.0	0.001988	0.002069	0.002287	3.266e-05

ESP
AA	EA
0.0	0.002674

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.010033	Polymorphism

DBSNP ID

1 combination linked to CUBN:c.3356T>C, p.Leu1119Ser

1 disease linked to CUBN:c.3356T>C, p.Leu1119Ser

Isolated anencephaly

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