FBN1 c.5503_5504delinsGC ;(p.C1835A)

Variant ID: 15-48744800-CA-GC

NM_000138.4(FBN1):c.5503_5504delinsGC;(p.C1835A)

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:

Recent advances in elucidating the genetics of common variable immunodeficiency.

Genes & Diseases
Aggarwal, Vaishali V; Banday, Aaqib Zaffar AZ; Jindal, Ankur Kumar AK; Das, Jhumki J; Rawat, Amit A
Publication Date: 2020-03

Variant appearance in text: FBN1: c1835A
PubMed Link: 32181273
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page