NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000554606.8
Allele description [Variation Report for NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)]
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
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Conserved Domain Links for Protein (Select 928193894) (3)
Conserved Domains
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Danio rerio chromosome 17 genomic contig ALT_CTG17_1_13, GRCz11 reference assemb...
Danio rerio chromosome 17 genomic contig ALT_CTG17_1_13, GRCz11 reference assembly alternate locus group ALT_DRER_TU_1gi|1193823255|gnl|ASM:GCA_002119155 T_CTG17_1_13|gb|KZ115522.1|Nucleotide
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txid327830[Subtree] (10)
Taxonomy
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Homo sapiens BRD4-independent group 4 enhancer GRCh37_chr20:43803133-43804332 (L...
Homo sapiens BRD4-independent group 4 enhancer GRCh37_chr20:43803133-43804332 (LOC126863037) on chromosome 20gi|2302519222|ref|NG_087534.1|Nucleotide
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PMC Links for Nucleotide (Select 1776956389) (3)
PMC
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Last Updated: May 12, 2024