NM_001171.6(ABCC6):c.3943C>T (p.Leu1315Phe) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003266288.2
Allele description [Variation Report for NM_001171.6(ABCC6):c.3943C>T (p.Leu1315Phe)]
NM_001171.6(ABCC6):c.3943C>T (p.Leu1315Phe)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
LOW QUALITY PROTEIN: mediator of RNA polymerase II transcription subunit 23-like...
LOW QUALITY PROTEIN: mediator of RNA polymerase II transcription subunit 23-like [Arachis hypogaea]gi|1666252423|ref|XP_029153318.1|Protein
-
mediator of RNA polymerase II transcription subunit 23 [Scophthalmus maximus]
mediator of RNA polymerase II transcription subunit 23 [Scophthalmus maximus]gi|2215117426|ref|XP_035473898.2|Protein
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Last Updated: May 1, 2024