NM_145207.3(AFG2A):c.1533A>G (p.Arg511=) AND Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003051350.2
Allele description [Variation Report for NM_145207.3(AFG2A):c.1533A>G (p.Arg511=)]
NM_145207.3(AFG2A):c.1533A>G (p.Arg511=)
Condition(s)
-
Mus musculus eukaryotic translation initiation factor 3, subunit L, mRNA (cDNA c...
Mus musculus eukaryotic translation initiation factor 3, subunit L, mRNA (cDNA clone IMAGE:3966392), with apparent retained introngi|20987317|gb|BC021351.1|Nucleotide
-
Synthetic construct Mus musculus eukaryotic translation initiation factor 3, sub...
Synthetic construct Mus musculus eukaryotic translation initiation factor 3, subunit L, mRNA (cDNA clone MGC:37328 IMAGE:4975621), complete cdsgi|19353946|gb|BC024463.1|Nucleotide
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Last Updated: Sep 29, 2024