NM_172107.4(KCNQ2):c.129C>A (p.Ala43=) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 25, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001372753.8
Allele description [Variation Report for NM_172107.4(KCNQ2):c.129C>A (p.Ala43=)]
NM_172107.4(KCNQ2):c.129C>A (p.Ala43=)
Condition(s)
-
SRX3796978 (1)
SRA
-
MA_RS12490 [Methanosarcina acetivorans C2A]
MA_RS12490 [Methanosarcina acetivorans C2A]Gene ID:1474296Gene
-
1474296[uid] AND (alive[prop]) (1)
Gene
-
MAD2L1 binding protein [Mus musculus]
MAD2L1 binding protein [Mus musculus]gi|13543201|gb|AAH05768.1|Protein
-
Homo sapiens cDNA clone IMAGE:4838320
Homo sapiens cDNA clone IMAGE:4838320gi|23273162|gb|BC033402.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024