NM_013254.4(TBK1):c.701+1G>A AND Amyotrophic lateral sclerosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001843550.1
Allele description [Variation Report for NM_013254.4(TBK1):c.701+1G>A]
NM_013254.4(TBK1):c.701+1G>A
Condition(s)
- Name:
- Amyotrophic lateral sclerosis (ALS)
- Synonyms:
- Lou Gehrig disease; Charcot disease
- Identifiers:
- MONDO: MONDO:0004976; MedGen: C0002736; Human Phenotype Ontology: HP:0007354
Assertion and evidence details
Last Updated: Mar 10, 2024