Variant (rsID / SNP)

rs80338851

rs80338851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B3GLCT. Location: chromosome 13, position 31,843,415. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

B3GLCTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:31843415
Cytoband: 13q12.3
HGVS: NM_194318.4(B3GLCT):c.660+1G>A
Allele change: Silent

Associated conditions / phenotypes

Peters plus syndrome

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.