NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs) AND Autosomal recessive Alport syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 30, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000672397.1
Allele description [Variation Report for NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs)]
NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs)
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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Opsaridium peringueyi isolate CTOL03496 cytochrome b (cytb) gene, partial cds; m...
Opsaridium peringueyi isolate CTOL03496 cytochrome b (cytb) gene, partial cds; mitochondrialgi|299893149|gb|HM224311.1|Nucleotide
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Last Updated: Aug 5, 2023