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Details for EPHA5:c.1517A>G, p.Tyr506Cys

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
66286169	65420451

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1517A>G

PROTEIN CHANGE

p.Tyr506Cys

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
0.000104	0.0	0.0	0.0	0.001423	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.067379	Disease causing

DBSNP ID

1 combination linked to EPHA5:c.1517A>G, p.Tyr506Cys

1 disease linked to EPHA5:c.1517A>G, p.Tyr506Cys

Normosmic congenital hypogonadotropic hypogonadism

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