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Details for WT1:c.299C>G, p.Ala100Gly

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
32456608	32435062

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.299C>G

PROTEIN CHANGE

p.Ala100Gly

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	Damaging	2.987234	None

DBSNP ID

1 combination linked to WT1:c.299C>G, p.Ala100Gly

1 disease linked to WT1:c.299C>G, p.Ala100Gly

46,XY disorder of sex development

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