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Details for SPRY4:c.29T>A, p.Leu10Gln

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
141694714	142315149

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.29T>A

PROTEIN CHANGE

p.Leu10Gln

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.505983	Polymorphism

DBSNP ID

1 combination linked to SPRY4:c.29T>A, p.Leu10Gln

1 disease linked to SPRY4:c.29T>A, p.Leu10Gln

46,XY disorder of sex development

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