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Details for TBC1D20:c.1016T>C, p.Met339Thr

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
419426	438782

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1016T>C

PROTEIN CHANGE

p.Met339Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.205e-05	0.0	2.891e-05	0.0	5.437e-05	0.0	5.363e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.584902	Polymorphism

DBSNP ID

1 combination linked to TBC1D20:c.1016T>C, p.Met339Thr

1 disease linked to TBC1D20:c.1016T>C, p.Met339Thr

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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