NM_020988.3(GNAO1):c.877+6T>C AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002852372.3
Allele description [Variation Report for NM_020988.3(GNAO1):c.877+6T>C]
NM_020988.3(GNAO1):c.877+6T>C
Condition(s)
-
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 isoform 1 [Mus musculus]
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 isoform 1 [Mus musculus]gi|12963653|ref|NP_075860.1|Protein
-
Human germ line gene for immunoglobulin kappa light chain leader peptide and var...
Human germ line gene for immunoglobulin kappa light chain leader peptide and variable region (subgroup V kappa I)gi|33153|emb|V01577.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024