FBN1 c.5918A>G ;(p.D1973G)

Variant ID: 15-48736857-T-C

NM_000138.4(FBN1):c.5918A>G;(p.D1973G)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Clinical genome sequencing in an unbiased pediatric cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thiffault, Isabelle I; Farrow, Emily E; Zellmer, Lee L; Berrios, Courtney C; Miller, Neil N; Gibson, Margaret M; Caylor, Raymond R; Jenkins, Janda J; Faller, Deb D; Soden, Sarah S; Saunders, Carol C
Publication Date: 2019-02

Variant appearance in text: FBN1: 5918A>G; D1973G
PubMed Link: 30008475
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_75.pdf
View BVdb publication page