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Variant (rsID / SNP)

rs369806785

BSCL2

rs369806785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSCL2. Location: chromosome 11, position 62,462,082. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BSCL2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:62462082
Cytoband
11q12.3
HGVS
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)
Allele change
Silent

Associated conditions / phenotypes

Congenital generalized lipodystrophy type 2|Neuronopathy, distal hereditary motor, type 5A|Charcot-Marie-Tooth disease type 2|Hereditary spastic paraplegia

Public references

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