NM_130837.3(OPA1):c.2551G>T (p.Glu851Ter) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000512693.21
Allele description [Variation Report for NM_130837.3(OPA1):c.2551G>T (p.Glu851Ter)]
NM_130837.3(OPA1):c.2551G>T (p.Glu851Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
AK137546 (0)
GEO Profiles
-
response regulator [Leptospira biflexa]
response regulator [Leptospira biflexa]gi|501355961|ref|WP_012387527.1|Protein
-
Homo sapiens 211000035830235 genomic scaffold, whole genome shotgun sequence
Homo sapiens 211000035830235 genomic scaffold, whole genome shotgun sequencegi|71514537|gb|CH471167.1||gnl|WGS: 211000035830235Nucleotide
-
unnamed protein product [Mus musculus]
unnamed protein product [Mus musculus]gi|26333421|dbj|BAC30428.1|Protein
-
twisted gastrulation protein [Mus musculus]
twisted gastrulation protein [Mus musculus]gi|9965413|gb|AAG10080.1|AF295097_1Protein
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Last Updated: Aug 4, 2024