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Details for E2F4:c.410T>C, p.Leu137Ser

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
67227377	67193474

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.410T>C

PROTEIN CHANGE

p.Leu137Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000167	0.0	0.0001157	0.0007937	0.0	0.0	7.911e-05	0.0001629	0.0006533

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.195493	Polymorphism

DBSNP ID

1 combination linked to E2F4:c.410T>C, p.Leu137Ser

1 disease linked to E2F4:c.410T>C, p.Leu137Ser

Non-acquired combined pituitary hormone deficiency

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