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Details for NOTCH4:c.2945C>T, p.Thr982Ile

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
32172087	32204310

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2945C>T

PROTEIN CHANGE

p.Thr982Ile

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
Deleterious	Possibly Damaging	2.895053	Polymorphism

DBSNP ID

1 combination linked to NOTCH4:c.2945C>T, p.Thr982Ile

1 disease linked to NOTCH4:c.2945C>T, p.Thr982Ile

Primary ovarian failure

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