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Variant (rsID / SNP)

rs137852868

HPD

rs137852868 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPD. Location: chromosome 12, position 122,277,904. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HPDConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:122277904
Cytoband
12q24.31
HGVS
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)
Allele change
Missense_I335M

Associated conditions / phenotypes

Tyrosinemia type III|Hawkinsinuria|Tyrosinemia type III|Hawkinsinuria

Public references

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