NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu) AND Tuberous sclerosis syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004003994.2
Allele description [Variation Report for NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu)]
NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu)
Condition(s)
-
JAKMIP2[gene] (38)
ClinVar
-
Canis lupus familiaris breed boxer cont3.10567, whole genome shotgun sequence
Canis lupus familiaris breed boxer cont3.10567, whole genome shotgun sequencegi|353720374|gnl|WGS:AAEX03|cont3.1 gb|AAEX03010567.1|Nucleotide
-
ENSAPLP00000004546 (0)
Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 2, 2024