Variant (rsID / SNP)

rs3763853

rs3763853 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSCL2, GNG3. Location: chromosome 11, position 62,473,044. 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: 11:62473044
Cytoband: 11q12.3
HGVS: NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
Allele change: Silent

Associated conditions / phenotypes

Neuronopathy, distal hereditary motor, type 5A|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.