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Details for NOTCH2:c.43C>T, p.Leu15Phe

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
120611978	120069364

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.43C>T

PROTEIN CHANGE

p.Leu15Phe

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
Tolerated	Possibly Damaging	2.336503	Polymorphism

DBSNP ID

1 combination linked to NOTCH2:c.43C>T, p.Leu15Phe

1 disease linked to NOTCH2:c.43C>T, p.Leu15Phe

Central precocious puberty

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