Variant (rsID / SNP)
rs6856
rs6856 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSCL2. Location: chromosome 11, position 62,458,275. Clinical significance in the table: Benign.
Reference-table entries
BSCL2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:62458275
- Cytoband
- 11q12.3
- HGVS
- NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)
- Allele change
- Silent
Associated conditions / phenotypes
Neuronopathy, distal hereditary motor, type 5A|Congenital generalized lipodystrophy type 2|Charcot-Marie-Tooth disease type 2|Severe neurodegenerative syndrome with lipodystrophy|Hereditary spastic paraplegia 17|Neuronopathy, distal hereditary motor, type 5C|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.