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Details for TACR3:c.824G>A, p.Trp275Ter

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
104577415	103656258

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.824G>A

PROTEIN CHANGE

p.Trp275Ter

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
0.0003068	0.0001231	5.798e-05	0.0001985	0.0	0.0	0.0006261	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	8.939699	Disease causing

DBSNP ID

2 combinations linked to TACR3:c.824G>A, p.Trp275Ter

OLI1283; OLI1602

1 disease linked to TACR3:c.824G>A, p.Trp275Ter

Normosmic congenital hypogonadotropic hypogonadism

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