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FBN1 c.4711G>T ;(p.G1571C)
Variant ID: 15-48760171-C-A
NM_000138.4(
FBN1
):c.4711G>T;(p.G1571C)
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:
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
Bmc Genomics
Lastella, Patrizia P; Surdo, Nicoletta Concetta NC; Resta, Nicoletta N; Guanti, Ginevra G; Stella, Alessandro A
Publication Date: 2006-09-22
Variant appearance in text: FBN1: G1571C
PubMed Link:
16995940
Variant Present in the following documents:
Main text
1471-2164-7-243.pdf
View BVdb publication page