NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND Anemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001255121.9
Allele description [Variation Report for NM_000518.5(HBB):c.20A>T (p.Glu7Val)]
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
Condition(s)
- Name:
- Anemia
- Synonyms:
- Anemia (disease)
- Identifiers:
- MONDO: MONDO:0002280; MedGen: C0002871; Human Phenotype Ontology: HP:0001903
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Homo sapiens RAB, member of RAS oncogene family like 2A (RABL2A), transcript variant 30, non-coding RNAgi|1701272829|ref|NR_148882.2|Nucleotide
-
Homo sapiens RAB, member of RAS oncogene family like 2A (RABL2A), transcript var...
Homo sapiens RAB, member of RAS oncogene family like 2A (RABL2A), transcript variant 27, non-coding RNAgi|1700448025|ref|NR_148879.2|Nucleotide
-
hypothetical protein (plasmid) [Leifsonia sp.]
hypothetical protein (plasmid) [Leifsonia sp.]gi|2808875717|gb|XHC90870.1|Protein
-
permease (plasmid) [Leifsonia sp.]
permease (plasmid) [Leifsonia sp.]gi|2808875734|gb|XHC90887.1|Protein
-
inactive tyrosine-protein kinase PEAK1 isoform X1 [Homo sapiens]
inactive tyrosine-protein kinase PEAK1 isoform X1 [Homo sapiens]gi|2462545907|ref|XP_054234792.1|Protein
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Last Updated: Oct 8, 2024