NM_001958.5(EEF1A2):c.771C>T (p.Gly257=) AND Developmental and epileptic encephalopathy, 33
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000811223.16
Allele description [Variation Report for NM_001958.5(EEF1A2):c.771C>T (p.Gly257=)]
NM_001958.5(EEF1A2):c.771C>T (p.Gly257=)
Condition(s)
-
DNA polymerase I [Mycobacterium phage LeeLot]
DNA polymerase I [Mycobacterium phage LeeLot]gi|1352803916|gb|AVJ50017.1|Protein
-
Chain M, Ferritin, middle subunit
Chain M, Ferritin, middle subunitgi|383280161|pdb|3RBC|MProtein
-
PMS2P1 AND (alive[prop]) (6)
Gene
-
UDP-N-acetylglucosamine 1-carboxyvinyltransferase [Caldicellulosiruptor kronotsk...
UDP-N-acetylglucosamine 1-carboxyvinyltransferase [Caldicellulosiruptor kronotskyensis 2002]gi|312203865|gnl|jgi|Calkro_2371|gb 7192.1|Protein
-
myl12b myosin light chain 12B [Xenopus tropicalis]
myl12b myosin light chain 12B [Xenopus tropicalis]Gene ID:448060Gene
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024