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Details for TACR3:c.799T>C, p.Tyr267His

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
104577440	103656283

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.799T>C

PROTEIN CHANGE

p.Tyr267His

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	4.038306	Disease causing

DBSNP ID

1 combination linked to TACR3:c.799T>C, p.Tyr267His

1 disease linked to TACR3:c.799T>C, p.Tyr267His

Normosmic congenital hypogonadotropic hypogonadism

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