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Details for ROR2:c.2080T>C, p.Cys694Arg

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
94486696	91724414

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2080T>C

PROTEIN CHANGE

p.Cys694Arg

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
9.153e-05	6.156e-05	5.783e-05	9.925e-05	0.0	0.0	0.0001672	0.0	0.0

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.930221	Disease causing

DBSNP ID

1 combination linked to ROR2:c.2080T>C, p.Cys694Arg

1 disease linked to ROR2:c.2080T>C, p.Cys694Arg

Isolated anencephaly

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