NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) AND Autosomal recessive Alport syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 10, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000666502.2
Allele description [Variation Report for NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)]
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
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
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bin.457 MAG
bin.457 MAGbiosample
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bin.103 MAG
bin.103 MAGbiosample
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MAG: Gammaproteobacteria bacterium isolate bin.430 MAG, whole genome shotgun seq...
MAG: Gammaproteobacteria bacterium isolate bin.430 MAG, whole genome shotgun sequencing projectgi|2476412457|emb|CATISL000000000.1 SL010000000Nucleotide
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MAG: SAR116 cluster bacterium isolate bin.517 MAG, whole genome shotgun sequenci...
MAG: SAR116 cluster bacterium isolate bin.517 MAG, whole genome shotgun sequencing projectgi|2476034759|emb|CATIST000000000.1 ST010000000Nucleotide
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Last Updated: Jun 23, 2024