FLNB c.5235_5236del ;(p.K1745Nfs*3)

Variant ID: 3-58128430-AGC-A

NM_001457.3(FLNB):c.5235_5236del;(p.K1745Nfs*3)

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:

Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.

Plastic And Reconstructive Surgery. Global Open
Davis, Amani A AA; Haredy, Mostafa M MM; Huey, Jennifer J; Scanga, Hannah H; Zuccoli, Giulio G; Pollack, Ian F IF; Tamber, Mandeep S MS; Goldstein, Jesse J; Madan-Khetarpal, Suneeta S; Nischal, Ken K KK
Publication Date: 2019-12

Variant appearance in text: FLNB: 5235_5236del
PubMed Link: 32537296
Variant Present in the following documents:
  • Main text
View BVdb publication page