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Details for NOTCH1:c.3679C>T, p.Pro1227Ser

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
139401390	136506938

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3679C>T

PROTEIN CHANGE

p.Pro1227Ser

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
7.477e-05	0.0	0.0	0.0	0.0006775	0.0	1.857e-05	0.0003401	6.616e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.054583	Disease causing

DBSNP ID

1 combination linked to NOTCH1:c.3679C>T, p.Pro1227Ser

1 disease linked to NOTCH1:c.3679C>T, p.Pro1227Ser

Normosmic congenital hypogonadotropic hypogonadism

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