Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs145649423

BSCL2

rs145649423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSCL2. Location: chromosome 11, position 62,457,948. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BSCL2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:62457948
Cytoband
11q12.3
HGVS
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
Allele change
Silent

Associated conditions / phenotypes

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