COL3A1 c.3554G>A ;(p.G1185D)

Variant ID: 2-189873678-G-A

NM_000090.3(COL3A1):c.3554G>A;(p.G1185D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A case of popliteal artery rupture in an 11-year-old patient with vascular Ehlers-Danlos syndrome.

Journal Of Vascular Surgery Cases And Innovative Techniques
Endo, Takashi T; Takayama, Toshio T; Suhara, Masamitsu M; Mochizuki, Yasuaki Y; Taniguchi, Ryosuke R; Hoshina, Katsuyuki K
Publication Date: 2023-06

Variant appearance in text: COL3A1: Gly1185Asp
PubMed Link: 36970138
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: COL3A1: 3554G>A; Gly1185Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: COL3A1: 3554G>A; Gly1185Asp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: COL3A1: G1185D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page