Variant (rsID / SNP)

rs36023382

rs36023382 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPD. Location: chromosome 12, position 122,277,891. Clinical significance in the table: Benign.

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Reference-table entries

HPDBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:122277891
Cytoband: 12q24.31
HGVS: NM_002150.3(HPD):c.1018G>T (p.Val340Leu)
Allele change: Missense_V340L

Associated conditions / phenotypes

Hawkinsinuria|Tyrosinemia type III|Hawkinsinuria|Tyrosinemia type III

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.