Variant (rsID / SNP)

rs185213208

rs185213208 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B3GALNT2. Location: chromosome 1, position 235,622,071. Clinical significance in the table: Uncertain significance.

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Reference-table entries

B3GALNT2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:235622071
Cytoband: 1q42.3
HGVS: NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe)
Allele change: Missense_L289F

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.