FH c.1411A>G ;(p.I471V)

Variant ID: 1-241661250-T-C

NM_000143.3(FH):c.1411A>G;(p.I471V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis.

Cancer Discovery
Schaettler, Maximilian O MO; Richters, Megan M MM; Wang, Anthony Z AZ; Skidmore, Zachary L ZL; Fisk, Bryan B; Miller, Katherine E KE; Vickery, Tammi L TL; Kim, Albert H AH; Chicoine, Michael R MR; Osbun, Joshua W JW; Leuthardt, Eric C EC; Dowling, Joshua L JL; Zipfel, Gregory J GJ; Dacey, Ralph G RG; Lu, Hsiang-Chih HC; Johanns, Tanner M TM; Griffith, Obi L OL; Mardis, Elaine R ER; Griffith, Malachi M; Dunn, Gavin P GP
Publication Date: 2022-01

Variant appearance in text: FH: 1411A>G; Ile471Val
PubMed Link: 34610950
Variant Present in the following documents:
  • cd-21-0291_supplementary_table_4_suppst4.xlsx, sheet 48
  • cd-21-0291_supplementary_table_3_suppst3.xlsx, sheet 47
  • cd-21-0291_supplementary_table_1_suppst1.xlsx, sheet 47
  • cd-21-0291_supplementary_table_1_suppst1.xlsx, sheet 49
  • cd-21-0291_supplementary_table_1_suppst1.xlsx, sheet 48
  • cd-21-0291_supplementary_table_4_suppst4.xlsx, sheet 47
  • cd-21-0291_supplementary_table_3_suppst3.xlsx, sheet 48
View BVdb publication page



Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A
Publication Date: 2020-11

Variant appearance in text: FH: 1411A>G; Ile471Val
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics
Al-Khateeb, Alyaa A; Zahri, Mohd K MK; Mohamed, Mohd S MS; Sasongko, Teguh H TH; Ibrahim, Suhairi S; Yusof, Zurkurnai Z; Zilfalil, Bin A BA
Publication Date: 2011-03-19

Variant appearance in text: FH: 1411A>G
PubMed Link: 21418584
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-40.pdf
View BVdb publication page