NM_021625.5(TRPV4):c.910C>T (p.Leu304=) AND Charcot-Marie-Tooth disease axonal type 2C
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002664086.2
Allele description
NM_021625.5(TRPV4):c.910C>T (p.Leu304=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease axonal type 2C (HMSN2C)
- Synonyms:
- Charcot-Marie-Tooth disease type 2C; Hereditary motor and sensory neuropathy 2 C; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011633; MedGen: C1853710; OMIM: 606071
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JGI_CAAO7800.fwd NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO7800 5', mRNA...
JGI_CAAO7800.fwd NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO7800 5', mRNA sequencegi|58731421|gnl|dbEST|27648582|gb|C 63.1|Nucleotide
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CR561057 XGC-tailbud-head Xenopus tropicalis cDNA clone THdA007b18 3', mRNA sequ...
CR561057 XGC-tailbud-head Xenopus tropicalis cDNA clone THdA007b18 3', mRNA sequencegi|50391134|gnl|dbEST|24610574|emb| 057.1|Nucleotide
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AFF3 ALF transcription elongation factor 3 [Homo sapiens]
AFF3 ALF transcription elongation factor 3 [Homo sapiens]Gene ID:3899Gene
-
Gene Links for GEO Profiles (Select 115359483) (1)
Gene
-
BCL6B BCL6B transcription repressor [Homo sapiens]
BCL6B BCL6B transcription repressor [Homo sapiens]Gene ID:255877Gene
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Last Updated: Feb 14, 2024