NM_000518.5(HBB):c.337T>C (p.Cys113Arg) AND Heinz body anemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 15, 1994
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000016393.30
Allele description [Variation Report for NM_000518.5(HBB):c.337T>C (p.Cys113Arg)]
NM_000518.5(HBB):c.337T>C (p.Cys113Arg)
Condition(s)
- Name:
- Heinz body anemia
- Synonyms:
- Heinz body anemias; Heinz body hemolytic anemia
- Identifiers:
- MONDO: MONDO:0007705; MedGen: C0700299; Orphanet: 178330; OMIM: 140700; Human Phenotype Ontology: HP:0005511
-
Tssr74358 AND (alive[prop]) (0)
Gene
-
RecName: Full=Scavenger receptor cysteine-rich type 1 protein M130; AltName: CD_...
RecName: Full=Scavenger receptor cysteine-rich type 1 protein M130; AltName: CD_antigen=CD163; Contains: RecName: Full=Soluble CD163; Short=sCD163; Flags: Precursorgi|108884836|sp|Q2VLG4.1|C163A_CHLAProtein
-
HEMOGLOBIN INDIANAPOLIS
HEMOGLOBIN INDIANAPOLISMedGen
-
C3889928[conceptid] (1)
MedGen
-
Dryptodon lisae (0)
Nucleotide
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Last Updated: Jun 9, 2024