NM_170707.4(LMNA):c.622A>C (p.Lys208Gln) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 6, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001234277.8
Allele description [Variation Report for NM_170707.4(LMNA):c.622A>C (p.Lys208Gln)]
NM_170707.4(LMNA):c.622A>C (p.Lys208Gln)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
BCL2-related ovarian killer protein [Mus musculus]
BCL2-related ovarian killer protein [Mus musculus]gi|20987978|gb|AAH30069.1|Protein
-
AGENCOURT_13329712 NICHD_XGC_Tad1 Xenopus laevis cDNA clone IMAGE:6878817 3', mR...
AGENCOURT_13329712 NICHD_XGC_Tad1 Xenopus laevis cDNA clone IMAGE:6878817 3', mRNA sequencegi|29480374|gnl|dbEST|17305926|gb|C 44.1|Nucleotide
-
AL868340 XGC-egg Xenopus tropicalis cDNA clone TEgg099h12 5', mRNA sequence
AL868340 XGC-egg Xenopus tropicalis cDNA clone TEgg099h12 5', mRNA sequencegi|38663488|gnl|dbEST|20690340|emb| 340.2|Nucleotide
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Last Updated: Sep 29, 2024