NM_004082.5(DCTN1):c.3294T>C (p.Ser1098=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003805595.1
Allele description [Variation Report for NM_004082.5(DCTN1):c.3294T>C (p.Ser1098=)]
NM_004082.5(DCTN1):c.3294T>C (p.Ser1098=)
Condition(s)
- Name:
- Amyotrophic lateral sclerosis type 1 (ALS1)
- Synonyms:
- AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
- Identifiers:
- MONDO: MONDO:0007103; MedGen: C1862939; Orphanet: 803; OMIM: 105400
- Name:
- Perry syndrome
- Synonyms:
- Parkinsonism with alveolar hypoventilation and mental depression
- Identifiers:
- MONDO: MONDO:0008201; MedGen: C1868594; Orphanet: 178509; OMIM: 168605
- Name:
- Neuronopathy, distal hereditary motor, type 7B
- Synonyms:
- HMN VIIB; LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011879; MedGen: C1843315; Orphanet: 139589; OMIM: 607641
-
Lactiplantibacillus plantarum strain CIF17A2 CIF17A2_contig00025, whole genome s...
Lactiplantibacillus plantarum strain CIF17A2 CIF17A2_contig00025, whole genome shotgun sequencegi|1110680269|gb|LEBD01000008.1||gn :LEBD01|CIF17A2_contig00025Nucleotide
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See more...Assertion and evidence details
Last Updated: May 26, 2024