NM_138694.4(PKHD1):c.2553C>T (p.Ser851=) AND Autosomal recessive polycystic kidney disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003504158.2
Allele description [Variation Report for NM_138694.4(PKHD1):c.2553C>T (p.Ser851=)]
NM_138694.4(PKHD1):c.2553C>T (p.Ser851=)
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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Homologene neighbors for GEO Profiles (Select 132659240) (0)
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Profile neighbors for GEO Profiles (Select 132659240) (2)
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Profile neighbors for GEO Profiles (Select 132673069) (30)
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Last Updated: Sep 29, 2024