NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His) AND Developmental and epileptic encephalopathy, 11
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001843757.1
Allele description [Variation Report for NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His)]
NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His)
Condition(s)
-
RecName: Full=Lysophosphatidic acid receptor 2; Short=LPA receptor 2; Short=LPA-...
RecName: Full=Lysophosphatidic acid receptor 2; Short=LPA receptor 2; Short=LPA-2; AltName: Full=Lysophosphatidic acid receptor Edg-4gi|2203400731|sp|Q9HBW0.3|LPAR2_HUMProtein
-
conserved hypothetical protein [Bacillus mycoides KBAB4]
conserved hypothetical protein [Bacillus mycoides KBAB4]gi|163860502|gnl|jgi|BcerKBAB4_0295 BY41561.1|Protein
-
JGI_CAAN11088.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone CAAN11088 5', mR...
JGI_CAAN11088.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone CAAN11088 5', mRNA sequencegi|58716388|gnl|dbEST|27633549|gb|C 30.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 15, 2024