NM_016252.4(BIRC6):c.12864T>C (p.Tyr4288=) AND BIRC6-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 26, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003969227.2
Allele description [Variation Report for NM_016252.4(BIRC6):c.12864T>C (p.Tyr4288=)]
NM_016252.4(BIRC6):c.12864T>C (p.Tyr4288=)
Condition(s)
- Name:
- BIRC6-related disorder
- Synonyms:
- BIRC6-related condition
- Identifiers:
-
Rattus norvegicus procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 (Plod2), tr...
Rattus norvegicus procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 (Plod2), transcript variant 2, mRNAgi|218931162|ref|NM_001142915.1|Nucleotide
-
Homo sapiens TBK1 binding protein 1, mRNA (cDNA clone MGC:176643 IMAGE:8862522),...
Homo sapiens TBK1 binding protein 1, mRNA (cDNA clone MGC:176643 IMAGE:8862522), complete cdsgi|187469582|gb|BC167150.1|Nucleotide
-
MICOS complex subunit MIC13 isoform 2 precursor [Homo sapiens]
MICOS complex subunit MIC13 isoform 2 precursor [Homo sapiens]gi|45387955|ref|NP_991330.1|Protein
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Last Updated: Oct 13, 2024