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Details for TACR3:c.857A>G, p.Lys286Arg

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
104577382	103656225

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.857A>G

PROTEIN CHANGE

p.Lys286Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0126	0.0393	0.0072	0.003	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003403	0.0237	0.004492	0.002284	0.00392	0.0	0.001569	0.004737	0.000392

ESP
AA	EA
0.02156	0.000814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.060775	Polymorphism

DBSNP ID

1 combination linked to TACR3:c.857A>G, p.Lys286Arg

1 disease linked to TACR3:c.857A>G, p.Lys286Arg

Normosmic congenital hypogonadotropic hypogonadism

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