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Details for HESX1:c.533delA, p.Asn178IlefsTer10

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
57232249	57198221

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

AT

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.533delA

PROTEIN CHANGE

p.Asn178IlefsTer10

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	3.961818	None

DBSNP ID

1 combination linked to HESX1:c.533delA, p.Asn178IlefsTer10

1 disease linked to HESX1:c.533delA, p.Asn178IlefsTer10

Normosmic congenital hypogonadotropic hypogonadism

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