NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626695.2
Allele description [Variation Report for NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)]
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)
Condition(s)
- Name:
- Anemia
- Synonyms:
- Anemia (disease)
- Identifiers:
- MONDO: MONDO:0002280; MedGen: C0002871; Human Phenotype Ontology: HP:0001903
- Name:
- Splenomegaly
- Synonyms:
- Enlarged Spleen
- Identifiers:
- MedGen: C0038002; Human Phenotype Ontology: HP:0001744
-
fws [Onthophagus taurus]
fws [Onthophagus taurus]Gene ID:111424950Gene
-
CNTNAP1 [Dasypus novemcinctus]
CNTNAP1 [Dasypus novemcinctus]Gene ID:101440808Gene
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Last Updated: Dec 17, 2022