NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs) AND Tuberous sclerosis 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 11, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001194676.1
Allele description [Variation Report for NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs)]
NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs)
Condition(s)
-
Aspergillus thermomutatus strain HMR AF 39 chromosome Unknown NODE_272, whole ge...
Aspergillus thermomutatus strain HMR AF 39 chromosome Unknown NODE_272, whole genome shotgun sequencegi|1489811505|ref|NW_020798322.1||g F_WGS:NKHU02|NODE_272Nucleotide
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See more...Assertion and evidence details
Last Updated: Nov 5, 2022