NM_002047.4(GARS1):c.1031+14T>G AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002229952.14
Allele description [Variation Report for NM_002047.4(GARS1):c.1031+14T>G]
NM_002047.4(GARS1):c.1031+14T>G
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
essv16346141 (2)
dbVar
-
essv16345946 (2)
dbVar
-
essv16345901 (2)
dbVar
-
essv16346077 (2)
dbVar
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024