NM_003482.4(KMT2D):c.3906+7G>A AND Kabuki syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003882131.2
Allele description [Variation Report for NM_003482.4(KMT2D):c.3906+7G>A]
NM_003482.4(KMT2D):c.3906+7G>A
Condition(s)
-
V(D)J recombination-activating protein 1 [Homo sapiens]
V(D)J recombination-activating protein 1 [Homo sapiens]gi|1787412530|ref|NP_000439.2|Protein
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Last Updated: Sep 29, 2024