NM_014845.6(FIG4):c.2485C>T (p.His829Tyr) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001068042.8
Allele description [Variation Report for NM_014845.6(FIG4):c.2485C>T (p.His829Tyr)]
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4
- Synonyms:
- Charcot-Marie-Tooth, Type 4
- Identifiers:
- MONDO: MONDO:0018995; MedGen: C4082197
-
Glutathione-independent glyoxalase DJR-1.1 [Caenorhabditis elegans]
Glutathione-independent glyoxalase DJR-1.1 [Caenorhabditis elegans]gi|17531319|ref|NP_493696.1|Protein
-
NM_0013180562 (0)
Nucleotide
-
AW171965 (0)
BioSample
-
PREDICTED: Xiphophorus maculatus RIC1 homolog, RAB6A GEF complex partner 1 (ric1...
PREDICTED: Xiphophorus maculatus RIC1 homolog, RAB6A GEF complex partner 1 (ric1), transcript variant X1, mRNAgi|1316108198|ref|XM_014470500.2|Nucleotide
-
PREDICTED: Mesocricetus auratus guanine monophosphate synthase (Gmps), transcrip...
PREDICTED: Mesocricetus auratus guanine monophosphate synthase (Gmps), transcript variant X2, mRNAgi|2025769496|ref|XM_040754348.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024