COL1A1 c.740C>T ;(p.P247L)

Variant ID: 17-48274551-G-A

NM_000088.3(COL1A1):c.740C>T;(p.P247L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Proteins, possibly human, found in World War II concentration camp artifact.

Scientific Reports
Yang, Heyi H; Butler, Erin E; Monier, Samantha A SA; Siegel, Donald D
Publication Date: 2022-07-20

Variant appearance in text: COL1A1: P247L; rs199626372
PubMed Link: 35858951
Variant Present in the following documents:
  • 41598_2022_16192_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family.

Genetics And Molecular Biology
Wang, Xiran X; Pei, Yu Y; Dou, Jingtao J; Lu, Juming J; Li, Jian J; Lv, Zhaohui Z
Publication Date: 2015-03

Variant appearance in text: COL1A1: 740C>T
PubMed Link: 25983617
Variant Present in the following documents:
  • Main text
  • 1415-4757-gmb-38-1-1.pdf
View BVdb publication page