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Details for TCF12:c.391T>C, p.Ser131Pro

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
57484356	57192158

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.391T>C

PROTEIN CHANGE

p.Ser131Pro

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
1.195e-05	0.0	0.0	0.0	5.442e-05	0.0	1.761e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.948036	Polymorphism

DBSNP ID

1 combination linked to TCF12:c.391T>C, p.Ser131Pro

1 disease linked to TCF12:c.391T>C, p.Ser131Pro

Hypogonadotropic hypogonadism with partial puberty phenotype

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