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Variant (rsID / SNP)

rs281864930

TTN

rs281864930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,391,826. Clinical significance in the table: Pathogenic.

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Reference-table entries

TTNPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
2:179391826
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)

Associated conditions / phenotypes

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

Public references

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