NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val) AND Tuberous sclerosis syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003998830.2
Allele description [Variation Report for NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val)]
NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val)
Condition(s)
-
S41 family peptidase [Shewanella cyperi]
S41 family peptidase [Shewanella cyperi]gi|2006242208|gnl|PRJNA704215|JYB88 5|gb|QSX30148.1|Protein
-
Complex V deficiency
Complex V deficiencyMedGen
-
C0342779[conceptid] (1)
MedGen
-
B4GAT1 beta-1,4-glucuronyltransferase 1 [Homo sapiens]
B4GAT1 beta-1,4-glucuronyltransferase 1 [Homo sapiens]Gene ID:11041Gene
-
Gene Links for GEO Profiles (Select 125855758) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024