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FBN1 c.1556A>G ;(p.Y519C)
Variant ID: 15-48805778-T-C
NM_000138.4(
FBN1
):c.1556A>G;(p.Y519C)
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:
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013
Variant appearance in text: FBN1: Y519C
PubMed Link:
23819521
Variant Present in the following documents:
1471-2164-14-S3-S7-S1.xlsx, sheet 1
1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page