NM_003361.4(UMOD):c.1500A>G (p.Ala500=) AND Familial juvenile hyperuricemic nephropathy type 1
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jul 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002251353.12
Allele description [Variation Report for NM_003361.4(UMOD):c.1500A>G (p.Ala500=)]
NM_003361.4(UMOD):c.1500A>G (p.Ala500=)
Condition(s)
- Name:
- Familial juvenile hyperuricemic nephropathy type 1 (ADTKD1)
- Synonyms:
- Medullary cystic kidney disease 2, autosomal dominant; TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1; Glomerulocystic kidney disease with hyperuricemia and isosthenuria; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008073; MedGen: C4551496; Orphanet: 209886; Orphanet: 34149; OMIM: 162000
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PREDICTED: Rattus norvegicus protein kinase cAMP-dependent type I regulatory sub...
PREDICTED: Rattus norvegicus protein kinase cAMP-dependent type I regulatory subunit beta (Prkar1b), transcript variant X4, mRNAgi|2678887168|ref|XM_039089118.2|Nucleotide
-
Rattus norvegicus TL0AEA68YK14 mRNA sequence
Rattus norvegicus TL0AEA68YK14 mRNA sequencegi|298902200|emb|FQ231663.1|Nucleotide
-
Homo sapiens 211000035836695 genomic scaffold, whole genome shotgun sequence
Homo sapiens 211000035836695 genomic scaffold, whole genome shotgun sequencegi|71518097|gb|CH471061.1||gnl|WGS: 211000035836695Nucleotide
-
Homo sapiens transforming growth factor, beta 3 (TGFB3) gene, complete cds
Homo sapiens transforming growth factor, beta 3 (TGFB3) gene, complete cdsgi|27501939|gb|AY208161.1|Nucleotide
-
Eno1l1 enolase 1 like 1 [Rattus norvegicus]
Eno1l1 enolase 1 like 1 [Rattus norvegicus]Gene ID:108351291Gene
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Last Updated: Aug 25, 2024