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Variant (rsID / SNP)

rs145204073

TTN

rs145204073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,593,804. 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
2:179593804
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)
Allele change
Missense_I6004V

Associated conditions / phenotypes

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

Public references

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