NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter) AND Autosomal recessive Alport syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002309225.2
Allele description [Variation Report for NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter)]
NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter)
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
-
MMYO10+
MMYO10+biosample
-
SAMN13353243 (1)
BioSample
-
C1720862[trait identifier] AND "Unidad de Genomica Medica UC, Pon... (2)
C1720862[trait identifier] AND "Unidad de Genomica Medica UC, Pontificia Universidad Catolica de Chile"[submitter]SearchClinVar
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023