NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter) AND Autosomal recessive polycystic kidney disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002510371.1
Allele description [Variation Report for NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter)]
NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter)
Condition(s)
- Name:
- Autosomal recessive polycystic kidney disease (ARPKD)
- Synonyms:
- POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I; Polycystic kidney disease, infantile type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009889; MeSH: D017044; MedGen: C0085548; Orphanet: 731; Orphanet: 8378
-
smad nuclear-interacting protein 1 isoform 1 [Mus musculus]
smad nuclear-interacting protein 1 isoform 1 [Mus musculus]gi|227430375|ref|NP_780455.2|Protein
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See more...Assertion and evidence details
Last Updated: Jul 29, 2023