PC c.1345_1347del ;(p.E449del)

Variant ID: 11-66631265-ACTC-A

NM_001040716.1(PC):c.1345_1347del;(p.E449del)

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:

First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.

Journal Of Clinical Medicine
Stingl, Julia V JV; Diederich, Stefan S; Diel, Heidi H; Schuster, Alexander K AK; Wagner, Felix M FM; Chronopoulos, Panagiotis P; Aghayeva, Fidan F; Grehn, Franz F; Winter, Jennifer J; Schweiger, Susann S; Hoffmann, Esther M EM
Publication Date: 2021-12-21

Variant appearance in text: PC: 1345_1347del
PubMed Link: 35011756
Variant Present in the following documents:
  • jcm-11-00016.pdf
View BVdb publication page


First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.

Journal Of Clinical Medicine
Stingl, Julia V JV; Diederich, Stefan S; Diel, Heidi H; Schuster, Alexander K AK; Wagner, Felix M FM; Chronopoulos, Panagiotis P; Aghayeva, Fidan F; Grehn, Franz F; Winter, Jennifer J; Schweiger, Susann S; Hoffmann, Esther M EM
Publication Date: 2021-12-21

Variant appearance in text: PC: 1345_1347del
PubMed Link: 35011756
Variant Present in the following documents:
  • jcm-11-00016.pdf
View BVdb publication page