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Variant (rsID / SNP)

rs2070074

GALT

rs2070074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALT. Location: chromosome 9, position 34,649,442. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.

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Reference-table entries

GALTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity; other
Variant type
single nucleotide variant
Chromosome / position
9:34649442
Cytoband
9p13.3
HGVS
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
Allele change
Missense_N205D

Associated conditions / phenotypes

GALT POLYMORPHISM (DUARTE, D2)|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.