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Variant (rsID / SNP)

rs397517599

TTN

rs397517599 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,476,673. 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
single nucleotide variant
Chromosome / position
2:179476673
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)
Allele change
Silent

Associated conditions / phenotypes

Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy

Public references

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