NM_000098.3(CPT2):c.930C>T (p.Gly310=) AND Encephalopathy, acute, infection-induced, susceptibility to, 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003453305.1
Allele description [Variation Report for NM_000098.3(CPT2):c.930C>T (p.Gly310=)]
NM_000098.3(CPT2):c.930C>T (p.Gly310=)
Condition(s)
-
Homo sapiens CD8b molecule (CD8B), transcript variant 5, mRNA
Homo sapiens CD8b molecule (CD8B), transcript variant 5, mRNAgi|296010931|ref|NM_004931.4|Nucleotide
-
DNA-directed RNA polymerase, mitochondrial isoform 21 [Homo sapiens]
DNA-directed RNA polymerase, mitochondrial isoform 21 [Homo sapiens]gi|2250017391|ref|NP_001394765.1|Protein
-
DNA-directed RNA polymerase, mitochondrial isoform 19 [Homo sapiens]
DNA-directed RNA polymerase, mitochondrial isoform 19 [Homo sapiens]gi|2250017343|ref|NP_001394763.1|Protein
-
OMIM Links for Gene (Select 5442) (2)
OMIM
-
RefSeq Protein Links for Gene (Select 5442) (23)
Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 20, 2024