NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002295337.4
Allele description [Variation Report for NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg)]
NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg)
Condition(s)
-
Homo sapiens RNA binding motif protein 47, mRNA (cDNA clone MGC:177477 IMAGE:905...
Homo sapiens RNA binding motif protein 47, mRNA (cDNA clone MGC:177477 IMAGE:9052460), complete cdsgi|219521532|gb|BC143942.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024