NM_000368.5(TSC1):c.1309C>G (p.His437Asp) 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:
- RCV004005561.2
Allele description [Variation Report for NM_000368.5(TSC1):c.1309C>G (p.His437Asp)]
NM_000368.5(TSC1):c.1309C>G (p.His437Asp)
Condition(s)
-
IL1B [Sus scrofa]
IL1B [Sus scrofa]Gene ID:397122Gene
-
397122[uid] AND (alive[prop]) (1)
Gene
-
Homo sapiens proline rich and Gla domain 3 (PRRG3), transcript variant 1, mRNA
Homo sapiens proline rich and Gla domain 3 (PRRG3), transcript variant 1, mRNAgi|1890342752|ref|NM_024082.4|Nucleotide
-
B-cell CLL/lymphoma 9-like protein isoform a [Homo sapiens]
B-cell CLL/lymphoma 9-like protein isoform a [Homo sapiens]gi|32698936|ref|NP_872363.1|Protein
-
RecName: Full=Protein kinase C epsilon type; AltName: Full=nPKC-epsilon
RecName: Full=Protein kinase C epsilon type; AltName: Full=nPKC-epsilongi|125555|sp|P16054.1|KPCE_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: Jun 2, 2024