Variant (rsID / SNP)
rs375163919
rs375163919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH3. Location: chromosome 17, position 10,536,902. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
MYH3Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:10536902
- Cytoband
- 17p13.1
- HGVS
- NM_002470.4(MYH3):c.4647+6T>G
- Allele change
- Silent
Associated conditions / phenotypes
Distal arthrogryposis type 2B1|Freeman-Sheldon syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.