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Variant (rsID / SNP)

rs193922247

GALT

rs193922247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALT. Location: chromosome 9, position 34,647,206. 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
9:34647206
Cytoband
9p13.3
HGVS
NM_000155.4(GALT):c.203A>C (p.His68Pro)
Allele change
Missense_M1L

Associated conditions / phenotypes

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia

Public references

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