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Details for ROR2:c.1624G>A, p.Val542Met

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
94487152	91724870

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1624G>A

PROTEIN CHANGE

p.Val542Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.042e-05	0.0	8.756e-05	0.0	0.0	0.0	1.802e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	1.12761	Polymorphism

DBSNP ID

1 combination linked to ROR2:c.1624G>A, p.Val542Met

1 disease linked to ROR2:c.1624G>A, p.Val542Met

Isolated anencephaly

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