NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000735291.3
Allele description [Variation Report for NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter)]
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter)
Condition(s)
- Name:
- Pectus excavatum
- Synonyms:
- funnel chest
- Identifiers:
- MONDO: MONDO:0008213; MedGen: C2051831; OMIM: 169300; Human Phenotype Ontology: HP:0000767
- Name:
- Acute myeloid leukemia (AML)
- Synonyms:
- Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808
- Name:
- Short stature
- Identifiers:
- MedGen: C0349588; Human Phenotype Ontology: HP:0004322
- Name:
- Cognitive impairment
- Identifiers:
- MedGen: C0338656; Human Phenotype Ontology: HP:0100543
- Name:
- Webbed neck
- Identifiers:
- MedGen: C0221217; Human Phenotype Ontology: HP:0000465
- Name:
- Pancytopenia
- Identifiers:
- MONDO: MONDO:0001529; MedGen: C0030312; Human Phenotype Ontology: HP:0001876
- Name:
- Abnormality of the tongue
- Identifiers:
- MedGen: C0878638; Human Phenotype Ontology: HP:0000157
Assertion and evidence details
Last Updated: Mar 5, 2024