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FBN1 c.399del ;(p.C134Vfs*8)
Variant ID: 15-48892379-AG-A
NM_000138.4(
FBN1
):c.399del;(p.C134Vfs*8)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Updated genetic studies of Marfan syndrome in China.
Intractable & Rare Diseases Research
Sun, Yuxin Y; Zhou, Di D; Wang, Shouhua S; Ding, Jun J; Ma, Fei F
Publication Date: 2021-11
Variant appearance in text: FBN1: 399delC
PubMed Link:
34877242
Variant Present in the following documents:
Main text
View BVdb publication page
Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome.
Global Medical Genetics
Yalcintepe, Sinem S; Demir, Selma S; Atli, Emine Ikbal EI; Deveci, Murat M; Atli, Engin E; Gurkan, Hakan H
Publication Date: 2020-08
Variant appearance in text: FBN1: 399delC
PubMed Link:
32939518
Variant Present in the following documents:
Main text
10-1055-s-0040-1714092.pdf
View BVdb publication page