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Details for TTN:c.93319C>T, p.Arg31107Cys

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179404550	178539823

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.93319C>T

PROTEIN CHANGE

p.Arg31107Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0008	0.0	0.0	0.002	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003745	0.0002583	0.0005219	0.001194	0.0	0.009656	0.005252	0.002316	0.002745

ESP
AA	EA
0.0004946	0.004066

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	Damaging	3.26017	Polymorphism

DBSNP ID

2 combinations linked to TTN:c.93319C>T, p.Arg31107Cys

3 diseases linked to TTN:c.93319C>T, p.Arg31107Cys

Left ventricular noncompaction; Dilated cardiomyopathy; Rubinstein-Taybi syndrome

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