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Details for TACR3:c.1345G>A, p.Ala449Thr

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
104510892	103589735

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1345G>A

PROTEIN CHANGE

p.Ala449Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0062	0.0	0.0072	0.0188	0.007	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005316	0.0007998	0.001736	0.0	0.02052	0.002218	0.007068	0.005059	0.0001307

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.452221	Polymorphism

DBSNP ID

1 combination linked to TACR3:c.1345G>A, p.Ala449Thr

1 disease linked to TACR3:c.1345G>A, p.Ala449Thr

Kallmann syndrome

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