Variant (rsID / SNP)
rs143680532
rs143680532 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIS3L2. Location: chromosome 2, position 232,952,349. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DIS3L2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:232952349
- Cytoband
- 2q37.1
- HGVS
- NM_152383.5(DIS3L2):c.519C>T (p.Ser173=)
- Allele change
- Synonymous_S173S
Associated conditions / phenotypes
Perlman syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.