NM_006147.4(IRF6):c.158A>G (p.Glu53Gly) AND Van der Woude syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 28, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001261360.1
Allele description [Variation Report for NM_006147.4(IRF6):c.158A>G (p.Glu53Gly)]
NM_006147.4(IRF6):c.158A>G (p.Glu53Gly)
Condition(s)
-
Mus musculus adult male testis cDNA, RIKEN full-length enriched library, clone:4...
Mus musculus adult male testis cDNA, RIKEN full-length enriched library, clone:4933412G19 product:regulatory factor X, 4 (influences HLA class II expression), full insert sequencegi|12855716|dbj|AK016791.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 30, 2024