NM_000092.5(COL4A4):c.2717-17T>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002501922.1
Allele description [Variation Report for NM_000092.5(COL4A4):c.2717-17T>C]
NM_000092.5(COL4A4):c.2717-17T>C
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
-
LOC105370651 [Homo sapiens]
LOC105370651 [Homo sapiens]Gene ID:105370651Gene
-
OT_ostta13g01600 [Ostreococcus tauri]
OT_ostta13g01600 [Ostreococcus tauri]Gene ID:34946335Gene
-
OT_ostta13g02550 [Ostreococcus tauri]
OT_ostta13g02550 [Ostreococcus tauri]Gene ID:34946344Gene
-
OT_ostta13g01430 [Ostreococcus tauri]
OT_ostta13g01430 [Ostreococcus tauri]Gene ID:34946334Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024