NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) AND Tuberous sclerosis syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003999188.2
Allele description [Variation Report for NM_000368.5(TSC1):c.1315C>G (p.Leu439Val)]
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val)
Condition(s)
-
Homo sapiens oxysterol binding protein, mRNA (cDNA clone IMAGE:4603277), partial...
Homo sapiens oxysterol binding protein, mRNA (cDNA clone IMAGE:4603277), partial cdsgi|38648810|gb|BC063121.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024