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Details for SPRY4:c.202A>T, p.Thr68Ser

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
141694541	142314976

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.202A>T

PROTEIN CHANGE

p.Thr68Ser

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
4.021e-06	0.0	0.0	0.0	5.448e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.464168	Polymorphism

DBSNP ID

1 combination linked to SPRY4:c.202A>T, p.Thr68Ser

1 disease linked to SPRY4:c.202A>T, p.Thr68Ser

Kallmann syndrome

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