NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val) AND Autosomal recessive polycystic kidney disease
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001829630.4
Allele description [Variation Report for NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val)]
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val)
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
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Mus musculus tumor necrosis factor receptor superfamily, member 26, mRNA (cDNA c...
Mus musculus tumor necrosis factor receptor superfamily, member 26, mRNA (cDNA clone MGC:170447 IMAGE:8861842), complete cdsgi|223459965|gb|BC138820.1|Nucleotide
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Last Updated: Sep 29, 2024