NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002476872.2
Allele description [Variation Report for NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)]
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)
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
- Name:
- Autosomal recessive Alport syndrome (ATS2)
- Synonyms:
- Alport syndrome recessive type; Nephropathy and deafness; ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008762; MedGen: C4746745; Orphanet: 63; Orphanet: 88919; OMIM: 203780
Assertion and evidence details
Last Updated: Jun 23, 2024