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Details for SHH:c.277G>A, p.Gly93Arg

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
155604540	155811846

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.277G>A

PROTEIN CHANGE

p.Gly93Arg

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
3.976e-06	0.0	0.0	0.0	0.0	0.0	0.0	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.156892	Disease causing

DBSNP ID

1 combination linked to SHH:c.277G>A, p.Gly93Arg

1 disease linked to SHH:c.277G>A, p.Gly93Arg

Syndrome with 46,XY disorder of sex development

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