NM_001009944.3(PKD1):c.11249G>C (p.Arg3750Pro) AND Polycystic kidney disease, adult type
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 23, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001000719.8
Allele description [Variation Report for NM_001009944.3(PKD1):c.11249G>C (p.Arg3750Pro)]
NM_001009944.3(PKD1):c.11249G>C (p.Arg3750Pro)
Condition(s)
- Name:
- Polycystic kidney disease, adult type (PKD1)
- Synonyms:
- Polycystic Kidney, Autosomal Dominant; POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I; Polycystic kidney disease 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008263; MedGen: C3149841; OMIM: 173900
-
hypothetical protein COCSUDRAFT_68096 [Coccomyxa subellipsoidea C-169]
hypothetical protein COCSUDRAFT_68096 [Coccomyxa subellipsoidea C-169]gi|384245452|gb|EIE18946.1||gnl|WGS |COCSUDRAFT_68096Protein
-
DNA52_RS13035 [Lactiplantibacillus plantarum]
DNA52_RS13035 [Lactiplantibacillus plantarum]Gene ID:57026688Gene
-
SPAR_B01720 [Saccharomyces paradoxus]
SPAR_B01720 [Saccharomyces paradoxus]Gene ID:54628856Gene
-
OSTLU_28999 [Ostreococcus lucimarinus CCE9901]
OSTLU_28999 [Ostreococcus lucimarinus CCE9901]Gene ID:5000008Gene
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023