NM_003482.4(KMT2D):c.8162G>A (p.Gly2721Asp) AND Kabuki syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000707379.7
Allele description [Variation Report for NM_003482.4(KMT2D):c.8162G>A (p.Gly2721Asp)]
NM_003482.4(KMT2D):c.8162G>A (p.Gly2721Asp)
Condition(s)
-
charged multivesicular body protein 5 isoform 2 [Homo sapiens]
charged multivesicular body protein 5 isoform 2 [Homo sapiens]gi|306966146|ref|NP_001182465.1|Protein
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Last Updated: Aug 25, 2024