Variant (rsID / SNP)
rs34946978
COVERS 10 GENEScovers 10 genes
rs34946978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COVERS 10 GENES, covers 10 genes. Location: chromosome 2, position 234,676,872. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.
Reference-table entries
COVERS 10 GENESConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; other
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:234676872
- Cytoband
- 2q37.1
- HGVS
- NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
- Allele change
- Missense_P361L
Associated conditions / phenotypes
Hyperbilirubinemia|Lucey-Driscoll syndrome|Gilbert syndrome|Crigler-Najjar syndrome, type II|Bilirubin, serum level of, quantitative trait locus 1|Crigler-Najjar syndrome type 1|Gilbert syndrome|Crigler-Najjar syndrome type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.