Variant (rsID / SNP)

rs112005830

rs112005830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZEB2. Location: chromosome 2, position 145,156,524. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ZEB2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:145156524
Cytoband: 2q22.3
HGVS: NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val)
Allele change: Missense_I720V

Associated conditions / phenotypes

Mowat-Wilson syndrome|History of neurodevelopmental disorder

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.