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Details for SHH:p.Phe241Val

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
155596262	155803568

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Phe241Val

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.475774	Disease causing

DBSNP ID

1 combination linked to SHH:p.Phe241Val

1 disease linked to SHH:p.Phe241Val

Holoprosencephaly

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