Variant (rsID / SNP)
rs16927166
rs16927166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT3. Location: chromosome 11, position 1,956,104. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TNNT3Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:1956104
- Cytoband
- 11p15.5
- HGVS
- NM_006757.4(TNNT3):c.636T>C (p.Ile212=)
- Allele change
- Synonymous_I215I
Associated conditions / phenotypes
Arthrogryposis multiplex congenita distal|Distal arthrogryposis type 2B1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
