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Details for TAC3:c.107G>A, p.Arg36His

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
57409475	57015691

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.107G>A

PROTEIN CHANGE

p.Arg36His

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
3.184e-05	0.0	0.0	0.0	0.0	4.646e-05	1.76e-05	0.0	0.0001633

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.243518	Polymorphism

DBSNP ID

1 combination linked to TAC3:c.107G>A, p.Arg36His

1 disease linked to TAC3:c.107G>A, p.Arg36His

Normosmic congenital hypogonadotropic hypogonadism

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