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Variant (rsID / SNP)

rs201892419

B4GAT1

rs201892419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B4GAT1. Location: chromosome 11, position 66,114,662. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

B4GAT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:66114662
Cytoband
11q13.2
HGVS
NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr)
Allele change
Missense_P119T

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.