Variant (rsID / SNP)
rs141443652
rs141443652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPO. Location: chromosome 12, position 98,927,312. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TMPOConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:98927312
- Cytoband
- 12q23.1
- HGVS
- NM_001032283.3(TMPO):c.565+1696C>T
- Allele change
- Silent
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Dilated cardiomyopathy 1T|Cardiovascular phenotype|Amyloidosis|Arrhythmogenic right ventricular cardiomyopathy|Loeys-Dietz syndrome 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.