FBN1 c.365_366delinsAA ;(p.R122Q)

Variant ID: 15-48892412-GC-TT

NM_000138.4(FBN1):c.365_366delinsAA;(p.R122Q)

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:

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Archives Of Disease In Childhood
Dai, Dan D; Mei, Mei M; Hu, Liyuan L; Cao, Yun Y; Wang, Xiaochuan X; Wang, Libo L; Lu, Yulan Y; Yang, Lin L; Dong, Xinran X; Wang, Huijun H; Wu, Bingbing B; Qian, Liling L
Publication Date: 2022-02

Variant appearance in text: FBN1: R122Q
PubMed Link: 34134972
Variant Present in the following documents:
  • archdischild-2021-322058supp001.pdf
View BVdb publication page