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Details for TNNT2:c.430C>T, p.Arg144Trp

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
201333485	201364357

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.430C>T

PROTEIN CHANGE

p.Arg144Trp

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
4.002e-06	0.0	0.0	0.0	0.0	0.0	8.824e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.636332	Disease causing

DBSNP ID

1 combination linked to TNNT2:c.430C>T, p.Arg144Trp

1 disease linked to TNNT2:c.430C>T, p.Arg144Trp

Left ventricular noncompaction

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