NM_000548.5(TSC2):c.5184C>G (p.Ser1728Arg) AND Tuberous sclerosis 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 12, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001973951.5
Allele description [Variation Report for NM_000548.5(TSC2):c.5184C>G (p.Ser1728Arg)]
NM_000548.5(TSC2):c.5184C>G (p.Ser1728Arg)
Condition(s)
-
PREDICTED: Strongylocentrotus purpuratus eIF-2-alpha kinase activator GCN1-like ...
PREDICTED: Strongylocentrotus purpuratus eIF-2-alpha kinase activator GCN1-like (LOC115919177), transcript variant X1, mRNAgi|1752341050|ref|XM_030972294.1|Nucleotide
-
Mus musculus late cornified envelope 1D (Lce1d), mRNA
Mus musculus late cornified envelope 1D (Lce1d), mRNAgi|141802815|ref|NM_027137.2|Nucleotide
-
Rattus norvegicus hydroxysteroid (17-beta) dehydrogenase 4 (Hsd17b4), mRNA
Rattus norvegicus hydroxysteroid (17-beta) dehydrogenase 4 (Hsd17b4), mRNAgi|162287197|ref|NM_024392.2|Nucleotide
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Last Updated: Jun 2, 2024