COL6A1 c.2424G>T ;(p.Q808H)

Variant ID: 21-47422614-G-T

NM_001848.2(COL6A1):c.2424G>T;(p.Q808H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: COL6A1: Q808H; rs140547835
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
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: COL6A1: 2424G>T; Gln808His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: COL6A1: Q808H; rs140547835
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

Plos One
Valencia, C Alexander CA; Ankala, Arunkanth A; Rhodenizer, Devin D; Bhide, Shruti S; Littlejohn, Martin Robert MR; Keong, Lisa Mari LM; Rutkowski, Anne A; Sparks, Susan S; Bonnemann, Carsten C; Hegde, Madhuri M
Publication Date: 2013

Variant appearance in text: COL6A1: 2424G>T; Q808H
PubMed Link: 23326386
Variant Present in the following documents:
  • Main text
  • pone.0053083.pdf
View BVdb publication page



Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

The Journal Of Molecular Diagnostics : Jmd
Valencia, C Alexander CA; Rhodenizer, Devin D; Bhide, Shruti S; Chin, Ephrem E; Littlejohn, Martin Robert MR; Keong, Lisa Mari LM; Rutkowski, Anne A; Bonnemann, Carsten C; Hegde, Madhuri M
Publication Date: 2012

Variant appearance in text: COL6A1: 2424G>T; Q808H
PubMed Link: 22426012
Variant Present in the following documents:
  • Main text
View BVdb publication page