Variant (rsID / SNP)

rs119465999

rs119465999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UTP4. Location: chromosome 16, position 69,199,289. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

UTP4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:69199289
Cytoband: 16q22.1
HGVS: NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp)
Allele change: Missense_R482W

Associated conditions / phenotypes

Hereditary North American Indian childhood cirrhosis

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.