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Details for TTN:p.Lys22368Asn

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179444910	178580183

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

None

PROTEIN CHANGE

p.Lys22368Asn

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
4.436e-05	0.0	0.0	0.000997	0.0	0.0	8.92e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	Possibly Damaging	2.304802	Polymorphism

DBSNP ID

1 combination linked to TTN:p.Lys22368Asn

1 disease linked to TTN:p.Lys22368Asn

Hypertrophic cardiomyopathy

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