NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val) AND Mowat-Wilson syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jul 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002181513.8
Allele description [Variation Report for NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val)]
NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val)
Condition(s)
-
Homo sapiens centrosomal protein 290 (CEP290), mRNA
Homo sapiens centrosomal protein 290 (CEP290), mRNAgi|1714615071|ref|NM_025114.4|Nucleotide
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Last Updated: Apr 6, 2024