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Details for SPRED3:c.157delG, p.Glu53AsnfsTer14

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
38881095	38390455

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

CG

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.157delG

PROTEIN CHANGE

p.Glu53AsnfsTer14

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
None	None	4.527819	Disease causing

DBSNP ID

1 combination linked to SPRED3:c.157delG, p.Glu53AsnfsTer14

1 disease linked to SPRED3:c.157delG, p.Glu53AsnfsTer14

Normosmic congenital hypogonadotropic hypogonadism

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