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Variant (rsID / SNP)

rs368166217

GALT

rs368166217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALT. Location: chromosome 9, position 34,648,843. 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
9:34648843
Cytoband
9p13.3
HGVS
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
Allele change
Missense_R149C

Associated conditions / phenotypes

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Public references

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