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Details for NOTCH3:c.6532C>T, p.Pro2178Ser

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
15271907	15161096

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.6532C>T

PROTEIN CHANGE

p.Pro2178Ser

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
0.0004715	0.0	0.002033	0.0	0.0	0.0	0.0002041	0.0009718	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.810698	Polymorphism

DBSNP ID

1 combination linked to NOTCH3:c.6532C>T, p.Pro2178Ser

1 disease linked to NOTCH3:c.6532C>T, p.Pro2178Ser

Idiopathic pulmonary arterial hypertension

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