NM_000548.5(TSC2):c.1828A>C (p.Ile610Leu) AND Tuberous sclerosis 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003100868.3
Allele description [Variation Report for NM_000548.5(TSC2):c.1828A>C (p.Ile610Leu)]
NM_000548.5(TSC2):c.1828A>C (p.Ile610Leu)
Condition(s)
-
PREDICTED: Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript var...
PREDICTED: Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant X7, mRNAgi|2462594666|ref|XM_054348816.1|Nucleotide
-
Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant ...
Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNAgi|94818890|ref|NM_001040458.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024