NM_138694.4(PKHD1):c.5236+17A>C AND Autosomal recessive polycystic kidney disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003612440.2
Allele description [Variation Report for NM_138694.4(PKHD1):c.5236+17A>C]
NM_138694.4(PKHD1):c.5236+17A>C
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 zinc finger RNA binding protein, mRNA (cDNA clone IMAGE:4952157), p...
Mus musculus zinc finger RNA binding protein, mRNA (cDNA clone IMAGE:4952157), partial cdsgi|1434873515|gb|BC038599.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024