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Details for SPRY4:c.530A>G, p.Lys177Arg

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
141694213	142314648

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.530A>G

PROTEIN CHANGE

p.Lys177Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0008	0.0	0.0	0.001	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001596	0.0003088	0.001041	0.0004965	0.0	0.0003234	0.002351	0.0006519	0.002515

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.362452	Polymorphism

DBSNP ID

1 combination linked to SPRY4:c.530A>G, p.Lys177Arg

1 disease linked to SPRY4:c.530A>G, p.Lys177Arg

Hypogonadotropic hypogonadism with absent puberty phenotype

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