Variant (rsID / SNP)

rs367543255

rs367543255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALT. Location: chromosome 9, position 34,647,840. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GALTUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:34647840
Cytoband: 9p13.3
HGVS: NM_000155.4(GALT):c.389G>A (p.Cys130Tyr)
Allele change: Missense_C21Y

Associated conditions / phenotypes

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

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.