NM_015295.3(SMCHD1):c.1039G>A (p.Ala347Thr) AND Facioscapulohumeral muscular dystrophy 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001225059.7
Allele description [Variation Report for NM_015295.3(SMCHD1):c.1039G>A (p.Ala347Thr)]
NM_015295.3(SMCHD1):c.1039G>A (p.Ala347Thr)
Condition(s)
-
Same Parent, Connectivity for PubChem Compound (Select 6449767) (9)
PubChem Compound
-
Mixture/Component Compounds for PubChem Compound (Select 6604822) (3)
PubChem Compound
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Last Updated: Sep 29, 2024