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Variant (rsID / SNP)

rs185341934

BSCL2

rs185341934 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSCL2. Location: chromosome 11, position 62,459,866. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BSCL2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:62459866
Cytoband
11q12.3
HGVS
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)
Allele change
Silent

Associated conditions / phenotypes

Neuronopathy, distal hereditary motor, type 5A|Congenital generalized lipodystrophy type 2|Monogenic diabetes|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.