NM_003482.4(KMT2D):c.6043C>T (p.Leu2015=) AND Kabuki syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003590064.2
Allele description [Variation Report for NM_003482.4(KMT2D):c.6043C>T (p.Leu2015=)]
NM_003482.4(KMT2D):c.6043C>T (p.Leu2015=)
Condition(s)
-
Homo sapiens cytochrome P450 family 11 subfamily A member 1 (CYP11A1), transcrip...
Homo sapiens cytochrome P450 family 11 subfamily A member 1 (CYP11A1), transcript variant 1, mRNAgi|153218645|ref|NM_000781.2|Nucleotide
-
Homo sapiens UL16 binding protein 1, mRNA (cDNA clone MGC:41778 IMAGE:4822311), ...
Homo sapiens UL16 binding protein 1, mRNA (cDNA clone MGC:41778 IMAGE:4822311), complete cdsgi|23243267|gb|BC035416.1|Nucleotide
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Last Updated: Sep 29, 2024