Variant (rsID / SNP)

rs144643461

rs144643461 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B4GALNT1. Location: chromosome 12, position 58,022,000. Clinical significance in the table: Uncertain significance.

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Reference-table entries

B4GALNT1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:58022000
Cytoband: 12q13.3
HGVS: NM_001478.5(B4GALNT1):c.1048A>G (p.Lys350Glu)
Allele change: Missense_K295E

Associated conditions / phenotypes

Spastic paraplegia

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.