NF1 c.3433_3434inv ;(p.T1145V)

Variant ID: 17-29559836-AC-GT

NM_001042492.2(NF1):c.3433_3434inv;(p.T1145V)

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:

Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.

Cell Reports
Wegscheid, Michelle L ML; Anastasaki, Corina C; Hartigan, Kelly A KA; Cobb, Olivia M OM; Papke, Jason B JB; Traber, Jennifer N JN; Morris, Stephanie M SM; Gutmann, David H DH
Publication Date: 2021-07-06

Variant appearance in text: NF1: Thr1145Val
PubMed Link: 34233200
Variant Present in the following documents:
  • NIHMS1722138-supplement-1.pdf
View BVdb publication page