FBN1 c.3042dup ;(p.A1015Cfs*17)

Variant ID: 15-48782087-C-CA

NM_000138.4(FBN1):c.3042dup;(p.A1015Cfs*17)

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:

Secondary findings in 421 whole exome-sequenced Chinese children.

Human Genomics
Chen, Wen W; Li, Wenke W; Ma, Yi Y; Zhang, Yujing Y; Han, Bianmei B; Liu, Xuewen X; Zhao, Kun K; Zhang, Meixian M; Mi, Jie J; Fu, Yuanyuan Y; Zhou, Zhou Z
Publication Date: 2018-09-14

Variant appearance in text: FBN1: 3042dupT; Ala1015fs
PubMed Link: 30217213
Variant Present in the following documents:
  • Main text
  • 40246_2018_Article_174.pdf
View BVdb publication page