NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) AND Kabuki syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002498411.1
Allele description [Variation Report for NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser)]
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser)
Condition(s)
-
Homo sapiens isocitrate dehydrogenase (NADP(+)) 2 (IDH2), RefSeqGene (LRG_611) o...
Homo sapiens isocitrate dehydrogenase (NADP(+)) 2 (IDH2), RefSeqGene (LRG_611) on chromosome 15; nuclear gene for mitochondrial productgi|300192901|ref|NG_023302.1||gnl|L G_611Nucleotide
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Last Updated: Sep 29, 2024