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Details for RET:p.Asp489Gly

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
43606857	43111409

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Asp489Gly

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
Tolerated	Benign	1.031335	Disease causing

DBSNP ID

1 combination linked to RET:p.Asp489Gly

1 disease linked to RET:p.Asp489Gly

Hirschsprung disease

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