Variant (rsID / SNP)
rs137852973
rs137852973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSCL2. Location: chromosome 11, position 62,469,965. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
BSCL2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:62469965
- Cytoband
- 11q12.3
- HGVS
- NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary spastic paraplegia 17|Charcot-Marie-Tooth disease type 2|Neuronopathy, distal hereditary motor, type 5A|Hereditary spastic paraplegia 17|Neuronopathy, distal hereditary motor, type 5C|Abnormal central motor function
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.