NM_005373.3(MPL):c.367C>T (p.Arg123Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002488495.2
Allele description [Variation Report for NM_005373.3(MPL):c.367C>T (p.Arg123Ter)]
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)
Condition(s)
- Name:
- Congenital amegakaryocytic thrombocytopenia
- Identifiers:
- MONDO: MONDO:0800451; MedGen: C1327915; Orphanet: 3319; OMIM: PS604498
-
colt [Zootermopsis nevadensis]
colt [Zootermopsis nevadensis]Gene ID:110831357Gene
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Last Updated: Sep 29, 2024