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Details for PTCH1:c.37C>G, p.Arg13Gly

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
98270607	95508325

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.37C>G

PROTEIN CHANGE

p.Arg13Gly

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
0.0007848	0.0	0.0	0.0	0.0	0.0	0.00146	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.903264	Polymorphism

DBSNP ID

1 combination linked to PTCH1:c.37C>G, p.Arg13Gly

1 disease linked to PTCH1:c.37C>G, p.Arg13Gly

Syndrome with 46,XY disorder of sex development

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