Variant (rsID / SNP)

rs61742900

rs61742900 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B3GALNT2. Location: chromosome 1, position 235,658,099. Clinical significance in the table: Benign.

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Reference-table entries

B3GALNT2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:235658099
Cytoband: 1q42.3
HGVS: NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys)
Allele change: Missense_Y51C

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.