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Details for TCF12:c.454C>T, p.Pro152Ser

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
57484419	57192221

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.454C>T

PROTEIN CHANGE

p.Pro152Ser

ALLELE FREQUENCY

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

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000358	0.000123	0.0005207	0.0	0.0	0.0	0.0005716	0.0003258	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.798418	Polymorphism

DBSNP ID

1 combination linked to TCF12:c.454C>T, p.Pro152Ser

1 disease linked to TCF12:c.454C>T, p.Pro152Ser

Hypogonadotropic hypogonadism with partial puberty phenotype

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