NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) AND Autosomal recessive polycystic kidney disease
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001089295.7
Allele description [Variation Report for NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)]
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)
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
-
Gm27190 AND (alive[prop]) (0)
Gene
-
Homo sapiens cDNA clone IMAGE:6194682, partial cds
Homo sapiens cDNA clone IMAGE:6194682, partial cdsgi|49256588|gb|BC073166.1|Nucleotide
-
CEBPZOS CEBPZ opposite strand [Homo sapiens]
CEBPZOS CEBPZ opposite strand [Homo sapiens]Gene ID:100505876Gene
-
Gene Links for GEO Profiles (Select 123017801) (1)
Gene
-
Transforming growth factor-beta effect on normal ovarian fibroblast NOF151 cells
Transforming growth factor-beta effect on normal ovarian fibroblast NOF151 cellsAccession: GDS5351GEO DataSets
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024