NM_170707.4(LMNA):c.11C>T (p.Pro4Leu) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001896572.6
Allele description [Variation Report for NM_170707.4(LMNA):c.11C>T (p.Pro4Leu)]
NM_170707.4(LMNA):c.11C>T (p.Pro4Leu)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
1638393[uid] (1)
Taxonomy
-
1738616[uid] (1)
Taxonomy
-
Manulea flanaganii AND 1[s_discriminator] (0)
dbGaP
-
uncharacterized protein LOC112418598 [Medicago truncatula]
uncharacterized protein LOC112418598 [Medicago truncatula]gi|1995099798|ref|XP_024630778.2|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024