NM_001127222.2(CACNA1A):c.7394C>T (p.Pro2465Leu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002708085.2
Allele description [Variation Report for NM_001127222.2(CACNA1A):c.7394C>T (p.Pro2465Leu)]
NM_001127222.2(CACNA1A):c.7394C>T (p.Pro2465Leu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Taxonomy Links for Protein (Select 296088810) (1)
Taxonomy
-
FAST kinase domain-containing protein 3, mitochondrial-like isoform X1 [Solea se...
FAST kinase domain-containing protein 3, mitochondrial-like isoform X1 [Solea senegalensis]gi|2105373821|ref|XP_043871596.1|Protein
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See more...Assertion and evidence details
Last Updated: May 1, 2024