Variant (rsID / SNP)

rs886041338

rs886041338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZEB2. Location: chromosome 2, position 145,157,652. Clinical significance in the table: Pathogenic.

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Reference-table entries

ZEB2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:145157652
Cytoband: 2q22.3
HGVS: NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter)
Allele change: Nonsense_Q344X

Associated conditions / phenotypes

Mowat-Wilson syndrome

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.