NM_000368.5(TSC1):c.746G>A (p.Arg249Lys) AND Tuberous sclerosis 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003505860.1
Allele description [Variation Report for NM_000368.5(TSC1):c.746G>A (p.Arg249Lys)]
NM_000368.5(TSC1):c.746G>A (p.Arg249Lys)
Condition(s)
-
tRNA (34-2'-O)-methyltransferase regulator WDR6 [Mus musculus]
tRNA (34-2'-O)-methyltransferase regulator WDR6 [Mus musculus]gi|13878227|ref|NP_113569.1|Protein
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Last Updated: Feb 20, 2024