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Details for ROR2:c.1583G>A, p.Arg528Gln

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
94487193	91724911

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1583G>A

PROTEIN CHANGE

p.Arg528Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0015	0.0014	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003439	0.002894	0.0006664	0.0	0.0	0.0	9.724e-05	0.0004913	6.563e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.486228	Disease causing

DBSNP ID

1 combination linked to ROR2:c.1583G>A, p.Arg528Gln

1 disease linked to ROR2:c.1583G>A, p.Arg528Gln

Syndrome with 46,XY disorder of sex development

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