NM_182931.3(KMT2E):c.3579C>T (p.Ser1193=) AND KMT2E-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 18, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003931782.2
Allele description [Variation Report for NM_182931.3(KMT2E):c.3579C>T (p.Ser1193=)]
NM_182931.3(KMT2E):c.3579C>T (p.Ser1193=)
Condition(s)
- Name:
- KMT2E-related disorder
- Synonyms:
- KMT2E-related condition
- Identifiers:
-
PREDICTED: Lutzomyia longipalpis 5.8S ribosomal RNA (LOC129794368), rRNA
PREDICTED: Lutzomyia longipalpis 5.8S ribosomal RNA (LOC129794368), rRNAgi|2500612093|ref|XR_008751033.1|Nucleotide
-
Homo sapiens BCL2 associated X, apoptosis regulator (BAX), transcript variant al...
Homo sapiens BCL2 associated X, apoptosis regulator (BAX), transcript variant alpha, mRNAgi|163659848|ref|NM_138761.3|Nucleotide
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Last Updated: Oct 13, 2024