NM_001127644.2(GABRA1):c.842C>A (p.Ala281Glu) AND Developmental and epileptic encephalopathy, 19
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003130964.3
Allele description [Variation Report for NM_001127644.2(GABRA1):c.842C>A (p.Ala281Glu)]
NM_001127644.2(GABRA1):c.842C>A (p.Ala281Glu)
Condition(s)
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Danio rerio checkpoint with forkhead and ring finger domains, E3 ubiquitin prote...
Danio rerio checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase (chfr), mRNAgi|153792018|ref|NM_001100015.1|Nucleotide
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fam167aa family with sequence similarity 167 member Aa [Danio rerio]
fam167aa family with sequence similarity 167 member Aa [Danio rerio]Gene ID:768193Gene
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Last Updated: Mar 16, 2024