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.92 MAG
bin.92 MAGbiosample
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bin.493 MAG
bin.493 MAGbiosample
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MAG: Formosa sp. Hel3_A1_48 isolate bin.217 MAG, whole genome shotgun sequencing...
MAG: Formosa sp. Hel3_A1_48 isolate bin.217 MAG, whole genome shotgun sequencing projectgi|2476177984|emb|CASZVF000000000.1 VF010000000Nucleotide
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MAG: Alphaproteobacteria bacterium UBA4588 isolate bin.501 MAG, whole genome sho...
MAG: Alphaproteobacteria bacterium UBA4588 isolate bin.501 MAG, whole genome shotgun sequencing projectgi|2476185019|emb|CATISA000000000.1 SA010000000Nucleotide
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MAG: Euryarchaeota archaeon isolate bin.111 MAG, whole genome shotgun sequencing...
MAG: Euryarchaeota archaeon isolate bin.111 MAG, whole genome shotgun sequencing projectgi|2475501922|emb|CATFLP000000000.1 LP010000000Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024