FBN1 c.5858_5916del ;(p.S1953*)

Variant ID: 15-48737574-CCACACAGGTCCTCCCATCTGGAGCCACCTCATAGCCTTCATTGCACTGGCACTGGAAAG-C

NM_000138.4(FBN1):c.5858_5916del;(p.S1953*)

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:

Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Plos One
Jensen, Sacha A SA; Atwa, Ondine O; Handford, Penny A PA
Publication Date: 2021

Variant appearance in text: FBN1: 5546_5917del
PubMed Link: 33735269
Variant Present in the following documents:
  • Main text
  • pone.0248532.pdf
  • pone.0248532.s001.xlsx, sheet 1
View BVdb publication page