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Details for TNNI3K:c.1033C>T, p.Arg244Ter

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
74808573	74342889

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1033C>T

PROTEIN CHANGE

p.Arg244Ter

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
2.788e-05	0.0	2.899e-05	0.0	5.439e-05	0.0	1.762e-05	0.0001634	6.533e-05

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	8.037973	Disease causing

DBSNP ID

1 combination linked to TNNI3K:c.1033C>T, p.Arg244Ter

1 disease linked to TNNI3K:c.1033C>T, p.Arg244Ter

Torsade-de-pointes syndrome with short coupling interval

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