NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) AND Autosomal recessive Alport syndrome
- 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:
- RCV001089905.2
Allele description [Variation Report for NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)]
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
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: May 7, 2024