NM_000540.3(RYR1):c.11980G>A (p.Val3994Met) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004447170.1
Allele description [Variation Report for NM_000540.3(RYR1):c.11980G>A (p.Val3994Met)]
NM_000540.3(RYR1):c.11980G>A (p.Val3994Met)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Aethina tumida isolate Nest 87 chromosome 7, whole genome shotgun sequence
Aethina tumida isolate Nest 87 chromosome 7, whole genome shotgun sequencegi|2274555804|gb|JALKMD010000005.1| WGS:JALKMD01|chromosome7Nucleotide
-
protein FAM114A2 isoform 2 [Mus musculus]
protein FAM114A2 isoform 2 [Mus musculus]gi|21312816|ref|NP_080618.1|Protein
-
Mus musculus dihydrolipoamide dehydrogenase (Dld), mRNA
Mus musculus dihydrolipoamide dehydrogenase (Dld), mRNAgi|164565429|ref|NM_007861.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024