NM_020708.5(SLC12A5):c.2907G>A (p.Glu969=) AND Developmental and epileptic encephalopathy, 34
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003755037.2
Allele description [Variation Report for NM_020708.5(SLC12A5):c.2907G>A (p.Glu969=)]
NM_020708.5(SLC12A5):c.2907G>A (p.Glu969=)
Condition(s)
-
unnamed protein product [Saccharomyces cerevisiae]
unnamed protein product [Saccharomyces cerevisiae]gi|1420021|emb|CAA99152.1|Protein
-
YALI0A03597p [Yarrowia lipolytica CLIB122]
YALI0A03597p [Yarrowia lipolytica CLIB122]gi|49645595|emb|CAG83653.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024