FBN1 c.3083A>G ;(p.D1028G)

Variant ID: 15-48780690-T-C

NM_000138.4(FBN1):c.3083A>G;(p.D1028G)

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:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: FBN1: 3083A>G; D1028G
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page


Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.

Molecular Vision
Li, Jie J; Jia, Xiaoyun X; Li, Shiqiang S; Fang, Shaohua S; Guo, Xiangming X
Publication Date: 2014

Variant appearance in text: FBN1: 3083A>G
PubMed Link: 25053872
Variant Present in the following documents:
  • Main text
  • mv-v20-1017.pdf
View BVdb publication page