EGR1 c.806dup ;(p.D270Rfs*24)

Variant ID: 5-137802940-A-AC

NM_001964.2(EGR1):c.806dup;(p.D270Rfs*24)

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:

Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations.

Frontiers In Endocrinology
Meng, Tingting T; Zhang, Wenzhe W; Zhang, Rongrong R; Li, Jie J; Gao, Yuan Y; Qin, Yingying Y; Jiao, Xue X
Publication Date: 2022

Variant appearance in text: 225: 804dupC
PubMed Link: 35574016
Variant Present in the following documents:
  • fendo-13-829153.pdf
View BVdb publication page