NM_001370298.3(FGD4):c.1143G>A (p.Ser381=) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000539868.11
Allele description [Variation Report for NM_001370298.3(FGD4):c.1143G>A (p.Ser381=)]
NM_001370298.3(FGD4):c.1143G>A (p.Ser381=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4
- Synonyms:
- Charcot-Marie-Tooth, Type 4
- Identifiers:
- MONDO: MONDO:0018995; MedGen: C4082197
-
MULTISPECIES: tRNA guanosine(34) transglycosylase Tgt [Salmonella]
MULTISPECIES: tRNA guanosine(34) transglycosylase Tgt [Salmonella]gi|446589959|ref|WP_000667305.1|Protein
-
PREDICTED: bZIP transcription factor 11 [Theobroma cacao]
PREDICTED: bZIP transcription factor 11 [Theobroma cacao]gi|590705982|ref|XP_007047594.1|Protein
-
F-box/LRR-repeat protein At4g29420 [Oryza sativa Japonica Group]
F-box/LRR-repeat protein At4g29420 [Oryza sativa Japonica Group]gi|1002226185|ref|XP_015625564.1|Protein
-
LOC110121160 [Homo sapiens]
LOC110121160 [Homo sapiens]Gene ID:110121160Gene
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024