NM_002047.4(GARS1):c.1962C>T (p.Ile654=) AND Neuronopathy, distal hereditary motor, type 5A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000297480.6
Allele description [Variation Report for NM_002047.4(GARS1):c.1962C>T (p.Ile654=)]
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)
Condition(s)
-
Superfamily Links for Conserved Domains (Select 215282) (1)
Conserved Domains
-
Component(Core) Links for Nucleotide (Select 657100409) (57)
Nucleotide
-
BCLAF1 BCL2 associated transcription factor 1 [Homo sapiens]
BCLAF1 BCL2 associated transcription factor 1 [Homo sapiens]Gene ID:9774Gene
-
Gene Links for GEO Profiles (Select 12593478) (1)
Gene
-
MAP3K5-AS1 MAP3K5 antisense RNA 1 [Homo sapiens]
MAP3K5-AS1 MAP3K5 antisense RNA 1 [Homo sapiens]Gene ID:101928461Gene
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Last Updated: May 12, 2024