NM_002047.4(GARS1):c.953A>T (p.Lys318Met) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 29, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002238440.6
Allele description [Variation Report for NM_002047.4(GARS1):c.953A>T (p.Lys318Met)]
NM_002047.4(GARS1):c.953A>T (p.Lys318Met)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
Dieffenbachia spruceana voucher Josef Bogner 2954 (M) trnK gene, partial sequenc...
Dieffenbachia spruceana voucher Josef Bogner 2954 (M) trnK gene, partial sequence; and maturase K (matK) gene, partial cds; chloroplastgi|293339182|gb|GQ220898.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024