Variant (rsID / SNP)
rs137852981
rs137852981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZEB2. Location: chromosome 2, position 145,156,671. Clinical significance in the table: Pathogenic.
Reference-table entries
ZEB2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:145156671
- Cytoband
- 2q22.3
- HGVS
- NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)
- Allele change
- Nonsense_R671X
Associated conditions / phenotypes
Mowat-Wilson syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.