TSC2 c.3323_3350del ;(p.A1108Gfs*74)

Variant ID: 16-2129593-AGGCGCCGGCCAAGCTGGAGTCCCAGGCT-A

NM_000548.3(TSC2):c.3323_3350del;(p.A1108Gfs*74)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.

Molecular Genetics & Genomic Medicine
Wang, Siyu S; Sun, Hairui H; Wang, Jianbin J; Gu, Xiaoyan X; Han, Lu L; Wu, Yuduo Y; Yan, He H; Han, Ling L; Zhang, Hongjia H; He, Yihua Y
Publication Date: 2021-10

Variant appearance in text: TSC2: 3323_3350del; A1108fs
PubMed Link: 34480426
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1802.pdf
View BVdb publication page


Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.

Molecular Genetics & Genomic Medicine
Wang, Siyu S; Sun, Hairui H; Wang, Jianbin J; Gu, Xiaoyan X; Han, Lu L; Wu, Yuduo Y; Yan, He H; Han, Ling L; Zhang, Hongjia H; He, Yihua Y
Publication Date: 2021-10

Variant appearance in text: TSC2: 3323_3350del; A1108fs
PubMed Link: 34480426
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1802.pdf
View BVdb publication page