NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) AND Charcot-Marie-Tooth disease type 2B1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003236576.1
Allele description [Variation Report for NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)]
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2B1 (CMT2B1)
- Synonyms:
- CMT 2B1; Charcot-Marie-Tooth disease, axonal, Type 2B1; Charcot-Marie-Tooth disease, neuronal, Type 2B1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011569; MedGen: C1854154; Orphanet: 98856; OMIM: 605588
-
zinc binding alcohol dehydrogenase [Homo sapiens]
zinc binding alcohol dehydrogenase [Homo sapiens]gi|40218007|gb|AAR82927.1|Protein
-
JGI_XZT60694.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7635583 3'...
JGI_XZT60694.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7635583 3', mRNA sequencegi|57075672|gnl|dbEST|26961064|gb|C 00.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024