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FBN1 c.1900T>C ;(p.S634P)
Variant ID: 15-48797282-A-G
NM_000138.4(
FBN1
):c.1900T>C;(p.S634P)
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:
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Journal Of The American Heart Association
Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H
Publication Date: 2023-04-12
Variant appearance in text: FBN1: Ser634Pro; rs1566914005
PubMed Link:
37042257
Variant Present in the following documents:
JAH3-12-e028625.pdf
JAH3-12-e028625-s001.pdf
View BVdb publication page
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
The British Journal Of Ophthalmology
Comeglio, P P; Evans, A L AL; Brice, G G; Cooling, R J RJ; Child, A H AH
Publication Date: 2002-12
Variant appearance in text: FBN1: S634P
PubMed Link:
12446365
Variant Present in the following documents:
Main text
View BVdb publication page