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FBN1 c.5243G>C ;(p.C1748S)
Variant ID: 15-48752496-C-G
NM_000138.4(
FBN1
):c.5243G>C;(p.C1748S)
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:
Geleophysic dysplasia caused by a mutation in FBN1: A case report.
World Journal Of Clinical Cases
Tao, Ying Y; Wei, Qing Q; Chen, Xun X; Nong, Guang-Min GM
Publication Date: 2021-08-26
Variant appearance in text: FBN1: 5243G>C; Cys1748Ser
PubMed Link:
34540975
Variant Present in the following documents:
Main text
WJCC-9-7175.pdf
View BVdb publication page
The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes.
Case Reports In Endocrinology
Globa, Evgenia E; Zelinska, Nataliya N; Dauber, Andrew A
Publication Date: 2018
Variant appearance in text: FBN1: 5243G>C; Cys1748Ser
PubMed Link:
30057829
Variant Present in the following documents:
Main text
CRIE2018-8212417.pdf
View BVdb publication page