Variant (rsID / SNP)
rs771562210
rs771562210 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,494,967. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TTNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:179494967
- Cytoband
- 2q31.2
- HGVS
- NM_001267550.2(TTN):c.44281+1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Primary dilated cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.