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Variant (rsID / SNP)

rs144245125

BSCL2

rs144245125 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSCL2. Location: chromosome 11, position 62,458,312. 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
11:62458312
Cytoband
11q12.3
HGVS
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
Allele change
Silent

Associated conditions / phenotypes

Neurologic Disorders/Seipinopathy|Congenital generalized lipodystrophy|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.