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Details for EVC:c.1316-20G>T,

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
5755492	5753765

VARIANT EFFECT

unknown

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1316-20G>T

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.532124	Polymorphism

DBSNP ID

1 combination linked to EVC:c.1316-20G>T,

1 disease linked to EVC:c.1316-20G>T,

46,XY disorder of sex development

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