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Details for SPRY4:c.626G>A, p.Cys209Tyr

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
141694117	142314552

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.626G>A

PROTEIN CHANGE

p.Cys209Tyr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0	0.0	0.0	0.002	0.0082

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002168	0.0005541	0.0005783	9.923e-05	0.0	0.001109	0.003501	0.001793	0.002678

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.771578	Polymorphism

DBSNP ID

1 combination linked to SPRY4:c.626G>A, p.Cys209Tyr

1 disease linked to SPRY4:c.626G>A, p.Cys209Tyr

Kallmann syndrome

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