HR c.223C>T ;(p.L75F)

Variant ID: 8-21986461-G-A

NM_005144.4(HR):c.223C>T;(p.L75F)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: HR: L75F; rs776209171
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genomic Variations in the Structural Proteins of SARS-CoV-2 and Their Deleterious Impact on Pathogenesis: A Comparative Genomics Approach.

Frontiers In Cellular And Infection Microbiology
Mohammad, Taj T; Choudhury, Arunabh A; Habib, Insan I; Asrani, Purva P; Mathur, Yash Y; Umair, Mohd M; Anjum, Farah F; Shafie, Alaa A; Yadav, Dharmendra Kumar DK; Hassan, Md Imtaiyaz MI
Publication Date: 2021

Variant appearance in text: HR: L75F
PubMed Link: 34722346
Variant Present in the following documents:
  • Main text
  • fcimb-11-765039.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: HR: L75F
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 46
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: HR: 223C>T
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.

Genetics And Molecular Biology
Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S
Publication Date: 2017

Variant appearance in text: HR: 223C>T
PubMed Link: 28590501
Variant Present in the following documents:
  • 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
View BVdb publication page



Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

Thrombosis And Haemostasis
Radic, Claudia Pamela CP; Rossetti, Liliana Carmen LC; Abelleyro, Miguel Martín MM; Candela, Miguel M; Pérez Bianco, Raúl R; de Tezanos Pinto, Miguel M; Larripa, Irene Beatriz IB; Goodeve, Anne A; De Brasi, Carlos Daniel C
Publication Date: 2013-01

Variant appearance in text: HR: 223C>T
PubMed Link: 23093250
Variant Present in the following documents:
  • Main text
View BVdb publication page