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Details for PTCH1:c.2635G>A, p.Asp879Asn

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
98224206	95461924

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2635G>A

PROTEIN CHANGE

p.Asp879Asn

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
5.567e-05	0.000123	0.0	0.0	0.0	0.0	0.0001055	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.340369	Disease causing

DBSNP ID

1 combination linked to PTCH1:c.2635G>A, p.Asp879Asn

1 disease linked to PTCH1:c.2635G>A, p.Asp879Asn

Isolated anencephaly

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