NM_000548.5(TSC2):c.4848A>T (p.Gln1616His) AND Tuberous sclerosis 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001366460.8
Allele description [Variation Report for NM_000548.5(TSC2):c.4848A>T (p.Gln1616His)]
NM_000548.5(TSC2):c.4848A>T (p.Gln1616His)
Condition(s)
-
RecName: Full=Solute carrier family 2, facilitated glucose transporter member 3;...
RecName: Full=Solute carrier family 2, facilitated glucose transporter member 3; AltName: Full=Glucose transporter type 3, brain; Short=GLUT-3gi|121760|sp|P11169.1|GTR3_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024