FBN1 c.1130G>A ;(p.C377Y)

Variant ID: 15-48812873-C-T

NM_000138.4(FBN1):c.1130G>A;(p.C377Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: FBN1: 1130G>A; Cys377Tyr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: FBN1: C377Y
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

Scientific Reports
Nayak, Shalini S SS; Schneeberger, Pauline E PE; Patil, Siddaramappa J SJ; Arun, Karegowda M KM; Suresh, Pujar V PV; Kiran, Viralam S VS; Siddaiah, Sateesh S; Maiya, Shreesha S; Venkatachalagupta, Shrikanth K SK; Kausthubham, Neethukrishna N; Kortüm, Fanny F; Rau, Isabella I; Wey-Fabrizius, Alexandra A; Van Den Heuvel, Lotte L; Meester, Josephina J; Van Laer, Lut L; Shukla, Anju A; Loeys, Bart B; Girisha, Katta M KM; Kutsche, Kerstin K
Publication Date: 2021-01-12

Variant appearance in text: FBN1: Cys377Tyr
PubMed Link: 33436942
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_80755.pdf
View BVdb publication page