Variant (rsID / SNP)
rs138664823
rs138664823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT1. Location: chromosome 19, position 55,645,419. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TNNT1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:55645419
- Cytoband
- 19q13.42
- HGVS
- NM_003283.6(TNNT1):c.750+15C>T
- Allele change
- Silent
Associated conditions / phenotypes
Nemaline myopathy 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.