NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001217249.7
Allele description [Variation Report for NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys)]
NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys)
Condition(s)
-
Drosophila melanogaster AT14346 full insert cDNA
Drosophila melanogaster AT14346 full insert cDNAgi|21064056|gb|AY113253.1|Nucleotide
-
A1O3_09204 [Capronia epimyces CBS 606.96]
A1O3_09204 [Capronia epimyces CBS 606.96]Gene ID:19173289Gene
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See more...Assertion and evidence details
Last Updated: May 1, 2024