TSC2 c.977_1035del ;(p.A326Dfs*5)

Variant ID: 16-2110672-GCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTC-G

NM_000548.3(TSC2):c.977_1035del;(p.A326Dfs*5)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Treichel, Alison M AM; Hamieh, Lana L; Nathan, Neera R NR; Tyburczy, Magdalena E ME; Wang, Ji-An JA; Oyerinde, Oyetewa O; Raiciulescu, Sorana S; Julien-Williams, Patricia P; Jones, Amanda M AM; Gopalakrishnan, Vissaagan V; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN
Publication Date: 2019-11

Variant appearance in text: TSC2: Ala326_Gln373del
PubMed Link: 31114024
Variant Present in the following documents:
  • Main text
  • nihms-1662901.pdf
View BVdb publication page