NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002499402.1
Allele description [Variation Report for NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)]
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)
Condition(s)
- 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: Mar 16, 2024