NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs) AND Inborn genetic diseases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002570672.2
Allele description [Variation Report for NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs)]
NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Aug 4, 2024