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Details for TACR3:c.689G>A, p.Arg230His

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
104579420	103658263

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.689G>A

PROTEIN CHANGE

p.Arg230His

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
1.593e-05	0.0	0.0	0.0	0.0001089	0.0	8.805e-06	0.0	3.267e-05

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.992766	Polymorphism

DBSNP ID

1 combination linked to TACR3:c.689G>A, p.Arg230His

1 disease linked to TACR3:c.689G>A, p.Arg230His

Kallmann syndrome

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