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FBN1 c.5866T>C ;(p.C1956R)
Variant ID: 15-48737624-A-G
NM_000138.4(
FBN1
):c.5866T>C;(p.C1956R)
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:
Survival, causes of death, and cardiovascular events in patients with Marfan syndrome.
Molecular Genetics & Genomic Medicine
Vanem, Thy Thy TT; Geiran, Odd Ragnar OR; Krohg-Sørensen, Kirsten K; Røe, Cecilie C; Paus, Benedicte B; Rand-Hendriksen, Svend S
Publication Date: 2018-11
Variant appearance in text: FBN1: 5866T>C; Cys1956Arg
PubMed Link:
30393980
Variant Present in the following documents:
MGG3-6-1114-s001.pdf
View BVdb publication page
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
Bmc Medical Genetics
Tjeldhorn, Lena L; Amundsen, Silja Svanstrøm SS; Barøy, Tuva T; Rand-Hendriksen, Svend S; Geiran, Odd O; Frengen, Eirik E; Paus, Benedicte B
Publication Date: 2015-12-18
Variant appearance in text: FBN1: Cys1956Arg
PubMed Link:
26684006
Variant Present in the following documents:
Main text
12881_2015_Article_260.pdf
View BVdb publication page