Variant (rsID / SNP)
rs767506087
rs767506087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZEB2. Location: chromosome 2, position 145,156,750. 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
- 2:145156750
- Cytoband
- 2q22.3
- HGVS
- NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp)
- Allele change
- Missense_E644D
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.
