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Variant (rsID / SNP)

rs201229787

BSCL2

rs201229787 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSCL2. Location: chromosome 11, position 62,458,765. 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
11:62458765
Cytoband
11q12.3
HGVS
NM_001122955.4(BSCL2):c.992G>A (p.Arg331His)
Allele change
Silent

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2

Public references

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