NM_025136.4(OPA3):c.24G>A (p.Met8Ile) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002596022.2
Allele description [Variation Report for NM_025136.4(OPA3):c.24G>A (p.Met8Ile)]
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens cDNA, FLJ93760, Homo sapiens carbonic anhydrase III, muscle specifi...
Homo sapiens cDNA, FLJ93760, Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNAgi|164693649|dbj|AK313254.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024