NM_004646.4(NPHS1):c.3667G>A (p.Asp1223Asn) AND Congenital nephrotic syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001123447.4
Allele description [Variation Report for NM_004646.4(NPHS1):c.3667G>A (p.Asp1223Asn)]
NM_004646.4(NPHS1):c.3667G>A (p.Asp1223Asn)
Condition(s)
- Name:
- Congenital nephrotic syndrome
- Synonyms:
- Nephrosis, congenital; Familial nephrotic syndrome
- Identifiers:
- MONDO: MONDO:0002350; MeSH: C535761; MedGen: C3501848; OMIM: PS256300; Human Phenotype Ontology: HP:0008677
-
Protein ALP1-like [Glycine max]
Protein ALP1-like [Glycine max]gi|959092799|ref|NP_001304633.1|Protein
-
Mus musculus scavenger receptor class A, member 5 (putative), mRNA (cDNA clone M...
Mus musculus scavenger receptor class A, member 5 (putative), mRNA (cDNA clone MGC:27633 IMAGE:4506472), complete cdsgi|16359266|gb|BC016096.1|Nucleotide
-
Chain A, HEAT-SHOCK TRANSCRIPTION FACTOR
Chain A, HEAT-SHOCK TRANSCRIPTION FACTORgi|2200755470|pdb|1HKS|AProtein
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Last Updated: Apr 9, 2023