NM_002047.4(GARS1):c.882-15T>G AND Charcot-Marie-Tooth disease type 2D
- Germline classification:
- Likely 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:
- RCV000324356.5
Allele description [Variation Report for NM_002047.4(GARS1):c.882-15T>G]
NM_002047.4(GARS1):c.882-15T>G
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2D (CMT2D)
- Synonyms:
- CMT 2D; Charcot-Marie-Tooth disease, axonal, Type 2D; Charcot-Marie-Tooth disease, neuronal, Type 2D; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011091; MedGen: C1832274; Orphanet: 99938; OMIM: 601472
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Related Structures (List) for Protein (Select 116109) (106)
Structure
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Oryctolagus cuniculus unplaced genomic scaffold chrUn0016, whole genome shotgun ...
Oryctolagus cuniculus unplaced genomic scaffold chrUn0016, whole genome shotgun sequencegi|260680126|gnl|WGS:AAGW02|chrUn00 |GL018714.1|Nucleotide
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Nucleotide Links for Protein (Select 2462583121) (2)
Nucleotide
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SRP54 signal recognition particle 54 [Homo sapiens]
SRP54 signal recognition particle 54 [Homo sapiens]Gene ID:6729Gene
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Gene Links for GEO Profiles (Select 108809482) (1)
Gene
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Last Updated: Mar 30, 2024