NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Apr 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000576573.1
Allele description
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu)
Condition(s)
- Name:
- Alport syndrome 3, autosomal dominant (ATS3)
- Synonyms:
- Alport syndrome dominant type; Renal failure and sensorineural hearing loss
- Identifiers:
- MONDO: MONDO:0007086; MedGen: C4746547; Orphanet: 63; Orphanet: 88918; OMIM: 104200
- Name:
- Alport syndrome, autosomal recessive (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: Jan 17, 2021