Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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