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Variant (rsID / SNP)

rs137853859

GALE

rs137853859 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALE. Location: chromosome 1, position 24,124,208. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GALEPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:24124208
Cytoband
1p36.11
HGVS
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
Allele change
Missense_R169W

Associated conditions / phenotypes

UDPglucose-4-epimerase deficiency|See cases

Public references

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