NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) AND Autosomal recessive polycystic kidney disease
- Germline classification:
- Pathogenic/Likely pathogenic (4 submissions)
- Last evaluated:
- Jan 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000169255.13
Allele description [Variation Report for NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)]
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
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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Synthetic construct Homo sapiens clone IMAGE:100016167, MGC:184154 2-deoxyribose...
Synthetic construct Homo sapiens clone IMAGE:100016167, MGC:184154 2-deoxyribose-5-phosphate aldolase homolog (C. elegans) (DERA) mRNA, encodes complete proteingi|157170049|gb|BC152913.1|Nucleotide
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mastoid process (31232)
PMC
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mastoid process AND 1[s_discriminator] (2)
dbGaP
-
EC2BBA23BD08.g1 Xenopus tropicalis xtbs plasmid library Xenopus tropicalis cDNA ...
EC2BBA23BD08.g1 Xenopus tropicalis xtbs plasmid library Xenopus tropicalis cDNA clone xtbs23G16 5', mRNA sequencegi|45876600|gnl|dbEST|22197093|gb|C 04.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024