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Details for RD3:c.509C>T, p.Ser170Phe

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
211652457	211479115

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.509C>T

PROTEIN CHANGE

p.Ser170Phe

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
2.043e-05	0.0	2.921e-05	0.0	0.0	0.0	2.721e-05	0.0	3.3e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.684526	Polymorphism

DBSNP ID

1 combination linked to RD3:c.509C>T, p.Ser170Phe

1 disease linked to RD3:c.509C>T, p.Ser170Phe

Normosmic congenital hypogonadotropic hypogonadism

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