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Details for TCF12:c.1491dup, p.Val498CysfsTer12

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
57554314	57262116

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

TT

TRANSCRIPT

N.A.

CDNA CHANGE

c.1491dup

PROTEIN CHANGE

p.Val498CysfsTer12

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	None	Disease causing

DBSNP ID

1 combination linked to TCF12:c.1491dup, p.Val498CysfsTer12

1 disease linked to TCF12:c.1491dup, p.Val498CysfsTer12

Hypogonadotropic hypogonadism with partial puberty phenotype

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