NM_004329.3(BMPR1A):c.41A>G (p.Tyr14Cys) AND Juvenile polyposis syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001903192.4
Allele description [Variation Report for NM_004329.3(BMPR1A):c.41A>G (p.Tyr14Cys)]
NM_004329.3(BMPR1A):c.41A>G (p.Tyr14Cys)
Condition(s)
-
Severe Aplastic Anemia
Severe Aplastic AnemiaMedGen
-
C1883018[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024