NM_000186.4(CFH):c.3150T>C (p.Asn1050=) AND Kidney disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002294476.2
Allele description [Variation Report for NM_000186.4(CFH):c.3150T>C (p.Asn1050=)]
NM_000186.4(CFH):c.3150T>C (p.Asn1050=)
Condition(s)
- Name:
- Kidney disorder
- Synonyms:
- Nephropathy; Kidney disease; Kidney Diseases; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0005240; MedGen: C0022658; Human Phenotype Ontology: HP:0000112
-
Superfamily Links for Conserved Domains (Select 341399) (1)
Conserved Domains
-
Sinocyclocheilus cyphotergous isolate NY02 cytochrome b gene, partial cds; mitoc...
Sinocyclocheilus cyphotergous isolate NY02 cytochrome b gene, partial cds; mitochondrialgi|2717528527|gb|OR141739.1|Nucleotide
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Last Updated: Oct 8, 2024