Variant (rsID / SNP)

rs137852975

rs137852975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSCL2. Location: chromosome 11, position 62,460,143. Clinical significance in the table: Pathogenic.

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Reference-table entries

BSCL2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:62460143
Cytoband: 11q12.3
HGVS: NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter)
Allele change: Silent

Associated conditions / phenotypes

Congenital generalized lipodystrophy type 2|Charcot-Marie-Tooth disease type 2

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.