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Details for ROBO3:c.2108G>A, p.Arg703Gln

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
124745041	124875145

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2108G>A

PROTEIN CHANGE

p.Arg703Gln

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
0.0001056	6.582e-05	2.927e-05	0.0	0.0009558	0.0	6.287e-05	0.0	0.0

ESP
AA	EA
0.0002488	0.0003606

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.836747	Polymorphism

DBSNP ID

1 combination linked to ROBO3:c.2108G>A, p.Arg703Gln

1 disease linked to ROBO3:c.2108G>A, p.Arg703Gln

Normosmic congenital hypogonadotropic hypogonadism

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