Variant (rsID / SNP)

rs111033765

rs111033765 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALT. Location: chromosome 9, position 34,648,883. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GALTConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:34648883
Cytoband: 9p13.3
HGVS: NM_000155.4(GALT):c.812A>G (p.Glu271Gly)
Allele change: Missense_E162G

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.