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Details for SPRY4:c.722C>A, p.Ser241Tyr

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
141694021	142314456

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.722C>A

PROTEIN CHANGE

p.Ser241Tyr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0024	0.0	0.0043	0.0	0.008	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004458	0.001232	0.004312	0.0	0.0	0.006438	0.00611	0.004742	0.002908

ESP
AA	EA
0.0006809	0.006163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.088439	Polymorphism

DBSNP ID

4 combinations linked to SPRY4:c.722C>A, p.Ser241Tyr

OLI369; OLI370; OLI371; OLI393

2 diseases linked to SPRY4:c.722C>A, p.Ser241Tyr

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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