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Details for ANGPTL3:c.776T>C, p.Met259Thr

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
63067494	62601823

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.776T>C

PROTEIN CHANGE

p.Met259Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0172	0.062	0.0058	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00409	0.05599	0.00272	0.0	0.0	0.0	8.848e-05	0.001636	3.268e-05

ESP
AA	EA
0.04789	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.898671	Polymorphism

DBSNP ID

1 combination linked to ANGPTL3:c.776T>C, p.Met259Thr

1 disease linked to ANGPTL3:c.776T>C, p.Met259Thr

Hypobetalipoproteinemia

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