NM_003482.4(KMT2D):c.6089A>G (p.Asn2030Ser) AND Kabuki syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001894783.5
-
C4324329 (0)
MedGen
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MULTISPECIES: pro-sigmaK processing inhibitor BofA family protein [Natrialba]
MULTISPECIES: pro-sigmaK processing inhibitor BofA family protein [Natrialba]gi|493880447|ref|WP_006826727.1|Protein
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MULTISPECIES: helix-turn-helix domain-containing protein [Natrialba]
MULTISPECIES: helix-turn-helix domain-containing protein [Natrialba]gi|493048611|ref|WP_006109584.1|Protein
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MULTISPECIES: DUF5795 family protein [Natrialba]
MULTISPECIES: DUF5795 family protein [Natrialba]gi|493047494|ref|WP_006108846.1|Protein
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MULTISPECIES: sugar phosphate nucleotidyltransferase [Natrialba]
MULTISPECIES: sugar phosphate nucleotidyltransferase [Natrialba]gi|1740188850|ref|WP_149079947.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024