Variant (rsID / SNP)

rs367543075

rs367543075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B3GALNT2. Location: chromosome 1, position 235,628,968. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

B3GALNT2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Duplication
Chromosome / position: 1:235628968
Cytoband: 1q42.3
HGVS: NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

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.