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Details for PTCH1:c.2671G>A, p.Gly891Ser

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
98224170	95461888

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2671G>A

PROTEIN CHANGE

p.Gly891Ser

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
9.545e-05	0.0	0.0001735	0.0	0.0	0.0	0.0001583	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.257851	Disease causing

DBSNP ID

1 combination linked to PTCH1:c.2671G>A, p.Gly891Ser

1 disease linked to PTCH1:c.2671G>A, p.Gly891Ser

Isolated anencephaly

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