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Details for TTN:c.62224G>A, p.Gly20742Arg

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179444867	178580140

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.62224G>A

PROTEIN CHANGE

p.Gly20742Arg

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
6.448e-05	6.463e-05	0.000116	0.0	5.591e-05	0.0	8.919e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001219

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	Damaging	3.045188	Polymorphism

DBSNP ID

1 combination linked to TTN:c.62224G>A, p.Gly20742Arg

1 disease linked to TTN:c.62224G>A, p.Gly20742Arg

Hypertrophic cardiomyopathy

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