NM_000091.5(COL4A3):c.1115-12A>G AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002486845.2
Allele description [Variation Report for NM_000091.5(COL4A3):c.1115-12A>G]
NM_000091.5(COL4A3):c.1115-12A>G
Condition(s)
- Name:
- Autosomal dominant Alport syndrome (ATS3A)
- Synonyms:
- Alport syndrome dominant type; Renal failure and sensorineural hearing loss; Alport syndrome 3, autosomal dominant; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007086; MedGen: C4746547; Orphanet: 63; Orphanet: 88918; OMIM: 104200
- 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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Plant sample from Carya illinoinensis
Plant sample from Carya illinoinensisbiosample
-
SAMN07691987 (1)
BioSample
-
txid1423[orgn] AND "strain SRCM103697"[All Fields] (4119)
Protein
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Last Updated: Feb 28, 2024