Variant (rsID / SNP)

rs121908045

rs121908045 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALE. Location: chromosome 1, position 24,123,618. Clinical significance in the table: Pathogenic.

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Reference-table entries

GALEPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:24123618
Cytoband: 1p36.11
HGVS: NM_001008216.2(GALE):c.548T>C (p.Leu183Pro)
Allele change: Missense_L183P

Associated conditions / phenotypes

UDPglucose-4-epimerase deficiency

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.