Variant (rsID / SNP)
rs199474721
rs199474721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT3. Location: chromosome 11, position 1,954,966. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TNNT3Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:1954966
- Cytoband
- 11p15.5
- HGVS
- NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)
- Allele change
- Missense_R66C
Associated conditions / phenotypes
Arthyrgryposis, distal, type 2B|Arthrogryposis, distal, type 2B2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.