GC c.492dup ;(p.T165Hfs*2)

Variant ID: 4-72629634-T-TG

NM_000583.3(GC):c.492dup;(p.T165Hfs*2)

This variant was identified in 4 publications

View GRCh38 version.



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

Publications:

Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology
Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC
Publication Date: 2022-10-21

Variant appearance in text: GC: 490_491insC
PubMed Link: 36271293
Variant Present in the following documents:
  • 42003_2022_4087_MOESM5_ESM.xlsx, sheet 7
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 5
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 3
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page


Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GC: 492dupC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page


Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy.

Internal Medicine (Tokyo, Japan)
Togawa, Jumpei J; Ohi, Takekazu T; Yuan, Jun-Hui JH; Takashima, Hiroshi H; Furuya, Hirokazu H; Takechi, Shinji S; Fujitake, Junko J; Hayashi, Saki S; Ishiura, Hiroyuki H; Naruse, Hiroya H; Mitsui, Jun J; Tsuji, Shoji S
Publication Date: 2019

Variant appearance in text: GC: 492_493insC
PubMed Link: 31257275
Variant Present in the following documents:
  • 1349-7235-58-1851-s001.pdf
View BVdb publication page


Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)
Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D
Publication Date: 2017-08-07

Variant appearance in text: GC: 490_491insC
PubMed Link: 28663342
Variant Present in the following documents:
  • 2413FileS2.xlsx, sheet 1
View BVdb publication page