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Details for PTCH1:c.4151C>T, p.Pro1384Leu

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
98209387	95447105

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4151C>T

PROTEIN CHANGE

p.Pro1384Leu

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
2.814e-05	6.373e-05	5.794e-05	0.0	0.0	0.0	0.0	0.0	0.0001309

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.051658	Polymorphism

DBSNP ID

1 combination linked to PTCH1:c.4151C>T, p.Pro1384Leu

1 disease linked to PTCH1:c.4151C>T, p.Pro1384Leu

Syndrome with 46,XY disorder of sex development

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