NM_005373.3(MPL):c.173C>T (p.Ala58Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002481475.8
Allele description [Variation Report for NM_005373.3(MPL):c.173C>T (p.Ala58Val)]
NM_005373.3(MPL):c.173C>T (p.Ala58Val)
Condition(s)
- Name:
- Congenital amegakaryocytic thrombocytopenia
- Identifiers:
- MONDO: MONDO:0800451; MedGen: C1327915; Orphanet: 3319; OMIM: PS604498
-
Mus musculus deoxyribonuclease 1-like 3 (Dnase1l3), mRNA
Mus musculus deoxyribonuclease 1-like 3 (Dnase1l3), mRNAgi|6681204|ref|NM_007870.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024