Variant (rsID / SNP)
rs199951665
rs199951665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZEB2. Location: chromosome 2, position 145,147,023. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ZEB2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:145147023
- Cytoband
- 2q22.3
- HGVS
- NM_014795.4(ZEB2):c.3640A>G (p.Met1214Val)
- Allele change
- Missense_M1190V
Associated conditions / phenotypes
Mowat-Wilson syndrome|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
