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Details for ROR2:c.2285C>T, p.Ser762Leu

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
94486491	91724209

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2285C>T

PROTEIN CHANGE

p.Ser762Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0014	0.0	0.003	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002918	0.0003697	0.0004048	9.925e-05	0.0	0.00803	0.00454	0.003589	0.0001307

ESP
AA	EA
0.0006809	0.00407

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.920024	Polymorphism

DBSNP ID

1 combination linked to ROR2:c.2285C>T, p.Ser762Leu

1 disease linked to ROR2:c.2285C>T, p.Ser762Leu

Isolated anencephaly

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