Variant (rsID / SNP)
rs723044
rs723044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIS3L2. Location: chromosome 2, position 232,879,671. Clinical significance in the table: Benign.
Reference-table entries
DIS3L2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:232879671
- Cytoband
- 2q37.1
- HGVS
- NM_152383.5(DIS3L2):c.34C>T (p.Pro12Ser)
- Allele change
- Missense_P12S
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.