NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763906.2
Allele description [Variation Report for NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met)]
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met)
Condition(s)
- Name:
- Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
- Synonyms:
- KUGELBERG-WELANDER SYNDROME, AUTOSOMAL DOMINANT; SPINAL MUSCULAR ATROPHY, JUVENILE, PROXIMAL, AUTOSOMAL DOMINANT; SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008026; MedGen: C5780022; Orphanet: 363447; OMIM: 158600
- Name:
- Charcot-Marie-Tooth disease axonal type 2O
- Synonyms:
- CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O; Charcot-Marie-Tooth disease, axonal, type 20; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013644; MedGen: C3280220; Orphanet: 284232; OMIM: 614228
-
PREDICTED: Rattus norvegicus kinesin family member 16B (Kif16b), transcript vari...
PREDICTED: Rattus norvegicus kinesin family member 16B (Kif16b), transcript variant X2, mRNAgi|2678929566|ref|XM_006235108.5|Nucleotide
-
Yersinia phage vB_YenM_201.16, complete genome
Yersinia phage vB_YenM_201.16, complete genomegi|2206602828|gb|OM046628.1|Nucleotide
-
LOC123620099 [Homo sapiens]
LOC123620099 [Homo sapiens]Gene ID:123620099Gene
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Last Updated: Jun 17, 2024