NM_170707.4(LMNA):c.12G>A (p.Pro4=) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000527270.10
Allele description [Variation Report for NM_170707.4(LMNA):c.12G>A (p.Pro4=)]
NM_170707.4(LMNA):c.12G>A (p.Pro4=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
DRAP deaminase [Diaporthe australafricana]
DRAP deaminase [Diaporthe australafricana]gi|2809837256|gb|KAL1859530.1||gnl| AWRVE|Daus18300_009531-T1Protein
-
bifunctional tRNA pseudouridine(32) synthase/23S rRNA pseudouridine(746) synthas...
bifunctional tRNA pseudouridine(32) synthase/23S rRNA pseudouridine(746) synthase RluA [Photobacterium damselae subsp. damselae]gi|2716358716|gnl|PRJNA1083106|WAX8 55|gb|WZD78326.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024