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Variant (rsID / SNP)

rs116572520

TTN

rs116572520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,592,567. 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
2:179592567
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)
Allele change
Missense_P6263S

Associated conditions / phenotypes

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

Public references

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