Variant (rsID / SNP)
rs146532299
rs146532299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLX4. Location: chromosome 16, position 3,639,145. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLX4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:3639145
- Cytoband
- 16p13.3
- HGVS
- NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)
- Allele change
- Synonymous_L1498L
Associated conditions / phenotypes
Fanconi anemia|Fanconi anemia complementation group P
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
