NM_004006.3(DMD):c.3196G>A (p.Glu1066Lys) AND Duchenne muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002975395.2
Allele description [Variation Report for NM_004006.3(DMD):c.3196G>A (p.Glu1066Lys)]
NM_004006.3(DMD):c.3196G>A (p.Glu1066Lys)
Condition(s)
-
EDARADD AND (alive[prop]) (648)
Gene
-
RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Fu...
RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIPgi|226694170|sp|Q15111.3|PLCL1_HUMAProtein
-
406090[uid] AND (alive[prop]) (1)
Gene
-
Mrjp1 [Apis mellifera]
Mrjp1 [Apis mellifera]Gene ID:406090Gene
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Last Updated: Feb 20, 2024