NM_006516.4(SLC2A1):c.1260G>T (p.Met420Ile) AND Epilepsy, idiopathic generalized, susceptibility to, 12
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003221773.1
Allele description [Variation Report for NM_006516.4(SLC2A1):c.1260G>T (p.Met420Ile)]
NM_006516.4(SLC2A1):c.1260G>T (p.Met420Ile)
Condition(s)
-
Homo sapiens F-box and leucine rich repeat protein 2 (FBXL2), transcript variant...
Homo sapiens F-box and leucine rich repeat protein 2 (FBXL2), transcript variant 1, mRNAgi|284447307|ref|NM_012157.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 30, 2023