NM_001365951.3(KIF1B):c.3688+10C>T AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001462992.7
Allele description [Variation Report for NM_001365951.3(KIF1B):c.3688+10C>T]
NM_001365951.3(KIF1B):c.3688+10C>T
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
peroxisomal trans-2-enoyl-CoA reductase isoform X3 [Gallus gallus]
peroxisomal trans-2-enoyl-CoA reductase isoform X3 [Gallus gallus]gi|2201810736|ref|XP_046777390.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024