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Details for PROKR2:c.868C>T, p.Pro290Ser

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5282973	5302327

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.868C>T

PROTEIN CHANGE

p.Pro290Ser

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
0.0001312	0.000123	0.0003758	0.0	0.0	0.0	0.0001582	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.861123	Disease causing

DBSNP ID

3 combinations linked to PROKR2:c.868C>T, p.Pro290Ser

OLI1516; OLI1536; OLI1540

1 disease linked to PROKR2:c.868C>T, p.Pro290Ser

46,XY disorder of sex development

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