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Details for SPRY4:c.313G>A, p.Asp105Asn

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
141694430	142314865

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.313G>A

PROTEIN CHANGE

p.Asp105Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002719	0.0	9.064e-05	0.005458	0.0	0.0	7.475e-05	0.0001758	0.0002201

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.823185	Polymorphism

DBSNP ID

1 combination linked to SPRY4:c.313G>A, p.Asp105Asn

1 disease linked to SPRY4:c.313G>A, p.Asp105Asn

Normosmic congenital hypogonadotropic hypogonadism

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