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Details for RET:c.1907C>T, p.Thr636Met

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
43609955	43114507

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1907C>T

PROTEIN CHANGE

p.Thr636Met

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
1.21e-05	0.0	8.676e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.343403	Disease causing

DBSNP ID

1 combination linked to RET:c.1907C>T, p.Thr636Met

1 disease linked to RET:c.1907C>T, p.Thr636Met

Disorder of sex development

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