NM_006147.4(IRF6):c.1388C>T (p.Ala463Val) AND Van der Woude syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000396623.5
Allele description [Variation Report for NM_006147.4(IRF6):c.1388C>T (p.Ala463Val)]
NM_006147.4(IRF6):c.1388C>T (p.Ala463Val)
Condition(s)
-
PREDICTED: Homo sapiens endosome associated trafficking regulator 1 (ENTR1), tra...
PREDICTED: Homo sapiens endosome associated trafficking regulator 1 (ENTR1), transcript variant X8, misc_RNAgi|2217375199|ref|XR_002956746.2|Nucleotide
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Last Updated: May 1, 2024