NM_002047.4(GARS1):c.1004C>T (p.Ser335Phe) AND Neuronopathy, distal hereditary motor, type 5A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003152933.1
Allele description [Variation Report for NM_002047.4(GARS1):c.1004C>T (p.Ser335Phe)]
NM_002047.4(GARS1):c.1004C>T (p.Ser335Phe)
Condition(s)
-
SPARC related modular calcium binding 1 [Mus musculus]
SPARC related modular calcium binding 1 [Mus musculus]gi|11612485|ref|NP_071711.1|Protein
-
LOC109795971 [Cajanus cajan]
LOC109795971 [Cajanus cajan]Gene ID:109795971Gene
-
Cholagogues and Choleretics [Pharmacological Action]
Cholagogues and Choleretics [Pharmacological Action]MeSH
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024