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Details for SHH:c.676G>A, p.Ala226Thr

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
155596307	155803613

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.676G>A

PROTEIN CHANGE

p.Ala226Thr

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
4.373e-05	0.0	8.796e-05	0.0	0.0	0.0	6.643e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.895696	Disease causing

DBSNP ID

1 combination linked to SHH:c.676G>A, p.Ala226Thr

1 disease linked to SHH:c.676G>A, p.Ala226Thr

Craniorachischisis

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