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Variant (rsID / SNP)

rs149523263

TTN

rs149523263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,584,831. 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
2:179584831
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
Allele change
Missense_F7529L

Associated conditions / phenotypes

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