NM_000092.5(COL4A4):c.1580del (p.Gly527fs) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 11, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001089913.2
Allele description [Variation Report for NM_000092.5(COL4A4):c.1580del (p.Gly527fs)]
NM_000092.5(COL4A4):c.1580del (p.Gly527fs)
Condition(s)
- Name:
- Autosomal dominant Alport syndrome (ATS3A)
- Synonyms:
- Alport syndrome dominant type; Renal failure and sensorineural hearing loss; Alport syndrome 3, autosomal dominant; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007086; MedGen: C5882663; Orphanet: 63; Orphanet: 88918; OMIM: 104200
Assertion and evidence details
Last Updated: Sep 29, 2024