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Variant (rsID / SNP)

rs368327166

TTN

rs368327166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,544,685. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TTNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
Microsatellite
Chromosome / position
2:179544685
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)

Associated conditions / phenotypes

Ventricular fibrillation, paroxysmal familial, type 1|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Cardiomyopathy|Primary dilated cardiomyopathy|Brugada syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.