NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND Developmental and epileptic encephalopathy, 42
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jan 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003152591.9
Allele description [Variation Report for NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)]
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
Condition(s)
-
VWA3B von Willebrand factor A domain containing 3B [Homo sapiens]
VWA3B von Willebrand factor A domain containing 3B [Homo sapiens]Gene ID:200403Gene
-
Gene Links for GEO Profiles (Select 71994914) (1)
Gene
-
ataxin-2-like protein isoform X42 [Homo sapiens]
ataxin-2-like protein isoform X42 [Homo sapiens]gi|2462547267|ref|XP_054235449.1|Protein
-
POM121L1P POM121 transmembrane nucleoporin like 1, pseudogene [Homo sapiens]
POM121L1P POM121 transmembrane nucleoporin like 1, pseudogene [Homo sapiens]Gene ID:25812Gene
-
ATP6V0A4 ATPase H+ transporting V0 subunit a4 [Homo sapiens]
ATP6V0A4 ATPase H+ transporting V0 subunit a4 [Homo sapiens]Gene ID:50617Gene
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024