Variant (rsID / SNP)
rs146593182
rs146593182 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UNC93B1. Location: chromosome 11, position 67,770,499. Clinical significance in the table: Benign.
Reference-table entries
UNC93B1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:67770499
- Cytoband
- 11q13.2
- HGVS
- NM_030930.4(UNC93B1):c.385C>A (p.Leu129Ile)
- Allele change
- Missense_L129I
Associated conditions / phenotypes
Herpes simplex encephalitis, susceptibility to, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.