NM_033380.3(COL4A5):c.2840G>A (p.Gly947Asp) AND Alport syndrome 1, X-linked recessive
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 4, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000021449.2
Allele description
NM_033380.3(COL4A5):c.2840G>A (p.Gly947Asp)
Condition(s)
- Name:
- Alport syndrome 1, X-linked recessive (ATS1)
- Synonyms:
- NEPHROPATHY AND DEAFNESS, X-LINKED; Alport Syndrome and Thin Basement Membrane Nephropathy; X-linked Alport syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010520; MedGen: C4746986; Orphanet: 63; Orphanet: 88917; OMIM: 301050
Assertion and evidence details
Last Updated: Nov 13, 2021