Variant (rsID / SNP)
rs145932311
rs145932311 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,610,514. 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
- 2:179610514
- Cytoband
- 2q31.2
- HGVS
- NM_133379.5(TTN):c.16613G>A (p.Arg5538His)
- Allele change
- Silent
Associated conditions / phenotypes
Primary dilated cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.