Variant (rsID / SNP)

rs147301375

rs147301375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B4GALNT1. Location: chromosome 12, position 58,022,618. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

B4GALNT1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:58022618
Cytoband: 12q13.3
HGVS: NM_001478.5(B4GALNT1):c.880G>A (p.Ala294Thr)
Allele change: Missense_A239T

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.