NM_130837.3(OPA1):c.2962_2966del (p.Val988fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001268602.2
Allele description [Variation Report for NM_130837.3(OPA1):c.2962_2966del (p.Val988fs)]
NM_130837.3(OPA1):c.2962_2966del (p.Val988fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Natural killer cell protein group 2-A
Natural killer cell protein group 2-Agi|81870457|sp|O54872|O54872_RATProtein
-
D11Die37 AND (alive[prop]) (0)
Gene
-
Nmf191 AND (alive[prop]) (0)
Gene
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Last Updated: Jun 23, 2024