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Details for PTPN13:c.4258+2T>C,

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
87686643	86765490

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.4258+2T>C

PROTEIN CHANGE

None

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
8.763e-05	0.0	0.0	0.0	0.0	0.0001098	0.0001704	0.0	4.223e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.484288	Disease causing

DBSNP ID

1 combination linked to PTPN13:c.4258+2T>C,

1 disease linked to PTPN13:c.4258+2T>C,

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