NM_017827.4(SARS2):c.103A>G (p.Thr35Ala) AND Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000292872.5
Allele description [Variation Report for NM_017827.4(SARS2):c.103A>G (p.Thr35Ala)]
NM_017827.4(SARS2):c.103A>G (p.Thr35Ala)
Condition(s)
- Name:
- Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (HUPRAS)
- Synonyms:
- HUPRA SYNDROME; Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis; HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
- Identifiers:
- MONDO: MONDO:0013458; MedGen: C3151209; Orphanet: 363694; OMIM: 613845
-
Mus musculus ribonuclease/angiogenin inhibitor 1 (Rnh1), transcript variant 1, m...
Mus musculus ribonuclease/angiogenin inhibitor 1 (Rnh1), transcript variant 1, mRNAgi|285402606|ref|NM_145135.3|Nucleotide
-
MULTISPECIES: chromatin protein Cren7 [Sulfolobaceae]
MULTISPECIES: chromatin protein Cren7 [Sulfolobaceae]gi|502107930|ref|WP_012711256.1|Protein
-
Synechococcus sp. NOUM97013 50S ribosomal protein L9 (rplI) gene, complete cds
Synechococcus sp. NOUM97013 50S ribosomal protein L9 (rplI) gene, complete cdsgi|1278030459|gb|KY854399.1|Nucleotide
-
Eif4a3 eukaryotic translation initiation factor 4A3 [Mus musculus]
Eif4a3 eukaryotic translation initiation factor 4A3 [Mus musculus]Gene ID:192170Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024