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Details for PTCH1:p.Pro1211Ser

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
98211524	95449242

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Pro1211Ser

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
6.814e-05	0.0	0.0	0.0	6.985e-05	0.0	0.0001351	0.0	3.927e-05

ESP
AA	EA
0.0	0.0002329

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.90277	Disease causing

DBSNP ID

1 combination linked to PTCH1:p.Pro1211Ser

1 disease linked to PTCH1:p.Pro1211Ser

Holoprosencephaly

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