Variant (rsID / SNP)
rs137852972
rs137852972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSCL2, HNRNPUL2-BSCL2. Location: chromosome 11, position 62,469,971. Clinical significance in the table: Pathogenic.
Reference-table entries
BSCL2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:62469971
- Cytoband
- 11q12.3
- HGVS
- NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary spastic paraplegia 17|Neuronopathy, distal hereditary motor, type 5A|Charcot-Marie-Tooth disease type 2|Neuronopathy, distal hereditary motor, type 5C|Peripheral neuropathy|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.