NM_213720.3(CHCHD10):c.410-13C>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003788462.1
Allele description [Variation Report for NM_213720.3(CHCHD10):c.410-13C>T]
NM_213720.3(CHCHD10):c.410-13C>T
Condition(s)
- Name:
- Lower motor neuron syndrome with late-adult onset (SMAJ)
- Synonyms:
- Spinal muscular atrophy, Jokela type
- Identifiers:
- MONDO: MONDO:0014025; MedGen: C3554398; Orphanet: 276435; OMIM: 615048
-
Saccharomyces cerevisiae S288C protein kinase HSL1 (HSL1), partial mRNA
Saccharomyces cerevisiae S288C protein kinase HSL1 (HSL1), partial mRNAgi|330443651|ref|NM_001179667.2|Nucleotide
-
PREDICTED: Homo sapiens 3-hydroxybutyrate dehydrogenase 1 (BDH1), transcript var...
PREDICTED: Homo sapiens 3-hydroxybutyrate dehydrogenase 1 (BDH1), transcript variant X3, mRNAgi|2217345382|ref|XM_047448680.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 5, 2024