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FBN1 c.2615A>G ;(p.K872R)
Variant ID: 15-48787382-T-C
NM_000138.4(
FBN1
):c.2615A>G;(p.K872R)
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:
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Journal Of Medical Genetics
Miller, Kerry A KA; Twigg, Stephen R F SR; McGowan, Simon J SJ; Phipps, Julie M JM; Fenwick, Aimée L AL; Johnson, David D; Wall, Steven A SA; Noons, Peter P; Rees, Katie E M KE; Tidey, Elizabeth A EA; Craft, Judith J; Taylor, John J; Taylor, Jenny C JC; Goos, Jacqueline A C JA; Swagemakers, Sigrid M A SM; Mathijssen, Irene M J IM; van der Spek, Peter J PJ; Lord, Helen H; Lester, Tracy T; Abid, Noina N; Cilliers, Deirdre D; Hurst, Jane A JA; Morton, Jenny E V JE; Sweeney, Elizabeth E; Weber, Astrid A; Wilson, Louise C LC; Wilkie, Andrew O M AO
Publication Date: 2017-04
Variant appearance in text: FBN1: 2615A>G; Lys872Arg
PubMed Link:
27884935
Variant Present in the following documents:
Main text
jmedgenet-2016-104215supp003.pdf
jmedgenet-2016-104215.pdf
View BVdb publication page