Variant (rsID / SNP)

rs190842600

rs190842600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSCL2. Location: chromosome 11, position 62,459,867. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BSCL2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:62459867
Cytoband: 11q12.3
HGVS: NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)
Allele change: Silent

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2|Hereditary spastic paraplegia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.