NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) AND AKT3-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004532479.2
Allele description [Variation Report for NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)]
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
Condition(s)
- Name:
- AKT3-related disorder
- Synonyms:
- AKT3-related condition
- Identifiers:
-
EST241186 Normalized rat brain, Bento Soares Rattus sp. cDNA clone RBRED85 3' en...
EST241186 Normalized rat brain, Bento Soares Rattus sp. cDNA clone RBRED85 3' end, mRNA sequencegi|4256390|gnl|dbEST|2220615|gb|AI4 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024