Variant (rsID / SNP)

rs121908046

rs121908046 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALE. Location: chromosome 1, position 24,125,397. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GALEConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:24125397
Cytoband: 1p36.11
HGVS: NM_001008216.2(GALE):c.101A>G (p.Asn34Ser)
Allele change: Missense_N34S

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.