NM_018006.5(TRMU):c.671T>G (p.Ile224Ser) AND Inborn genetic diseases
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 21, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000622398.2
Allele description [Variation Report for NM_018006.5(TRMU):c.671T>G (p.Ile224Ser)]
NM_018006.5(TRMU):c.671T>G (p.Ile224Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Jan 7, 2023