NM_000548.5(TSC2):c.1821G>C (p.Ala607=) AND Tuberous sclerosis syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001119051.4
Allele description [Variation Report for NM_000548.5(TSC2):c.1821G>C (p.Ala607=)]
NM_000548.5(TSC2):c.1821G>C (p.Ala607=)
Condition(s)
-
Homo sapiens plakophilin 4, mRNA (cDNA clone IMAGE:5276764)
Homo sapiens plakophilin 4, mRNA (cDNA clone IMAGE:5276764)gi|28703694|gb|BC048013.1|Nucleotide
-
KRTAP12-2 keratin associated protein 12-2 [Homo sapiens]
KRTAP12-2 keratin associated protein 12-2 [Homo sapiens]Gene ID:353323Gene
-
LINC00114 long intergenic non-protein coding RNA 114 [Homo sapiens]
LINC00114 long intergenic non-protein coding RNA 114 [Homo sapiens]Gene ID:400866Gene
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Last Updated: Jun 2, 2024