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Variant (rsID / SNP)

rs794729263

TTN

rs794729263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,478,666. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TTNPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:179478666
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.49346-2A>T
Allele change
Silent

Associated conditions / phenotypes

Dilated cardiomyopathy 1G|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J

Public references

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