NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 10, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000622930.4
Allele description [Variation Report for NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp)]
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA
Homo sapiens cartilage oligomeric matrix protein (COMP), mRNAgi|1519315648|ref|NM_000095.3|Nucleotide
-
NADH dehydrogenase subunit 2 (mitochondrion) [Tityra semifasciata]
NADH dehydrogenase subunit 2 (mitochondrion) [Tityra semifasciata]gi|224998785|gb|ACN78151.1|Protein
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Last Updated: Sep 29, 2024