NM_001136035.4(TRMT1):c.1496T>C (p.Met499Thr) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004468357.1
Allele description [Variation Report for NM_001136035.4(TRMT1):c.1496T>C (p.Met499Thr)]
NM_001136035.4(TRMT1):c.1496T>C (p.Met499Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
PREDICTED: Carassius gibelio biotin--protein ligase-like (LOC128013317), mRNA
PREDICTED: Carassius gibelio biotin--protein ligase-like (LOC128013317), mRNAgi|2397040819|ref|XM_052596224.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024