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Details for CAV3:c.233C>T, p.Thr78Met

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
8787330	8745644

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.233C>T

PROTEIN CHANGE

p.Thr78Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0038	0.0	0.0	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00263	0.004312	0.001042	0.004076	0.0	0.002923	0.003719	0.002123	0.0004908

ESP
AA	EA
0.004085	0.004419

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.646218	Disease causing

DBSNP ID

1 combination linked to CAV3:c.233C>T, p.Thr78Met

1 disease linked to CAV3:c.233C>T, p.Thr78Met

Familial long QT syndrome

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