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Details for TTN:c.19481T>G, p.Leu6494Arg

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179593070	178728343

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.19481T>G

PROTEIN CHANGE

p.Leu6494Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.002	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
9.51e-05	0.0001977	0.0	0.0	0.001136	0.0	0.0	0.0	0.0

ESP
AA	EA
0.0002728	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	Possibly Damaging	2.770834	Polymorphism

DBSNP ID

1 combination linked to TTN:c.19481T>G, p.Leu6494Arg

1 disease linked to TTN:c.19481T>G, p.Leu6494Arg

Limb-girdle muscular dystrophy

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