NM_016035.5(COQ4):c.192C>A (p.Pro64=) AND Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002926787.3
Allele description [Variation Report for NM_016035.5(COQ4):c.192C>A (p.Pro64=)]
NM_016035.5(COQ4):c.192C>A (p.Pro64=)
Condition(s)
-
Homo sapiens ankyrin repeat and SOCS box-containing 3, mRNA (cDNA clone MGC:996 ...
Homo sapiens ankyrin repeat and SOCS box-containing 3, mRNA (cDNA clone MGC:996 IMAGE:3537359), complete cdsgi|34782772|gb|BC006488.2|Nucleotide
-
Chain 7, DNA replication licensing factor MCM7
Chain 7, DNA replication licensing factor MCM7gi|1870085602|pdb|6WGF|7Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024