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FBN1 c.7030_7032delinsTTT ;(p.L2344F)
Variant ID: 15-48719936-TAG-AAA
NM_000138.4(
FBN1
):c.7030_7032delinsTTT;(p.L2344F)
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:
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
Npj Genomic Medicine
van Eyk, C L CL; Webber, D L DL; Minoche, A E AE; PĂ©rez-Jurado, L A LA; Corbett, M A MA; Gardner, A E AE; Berry, J G JG; Harper, K K; MacLennan, A H AH; Gecz, J J
Publication Date: 2021-09-16
Variant appearance in text: FBN1: L2344F
PubMed Link:
34531397
Variant Present in the following documents:
41525_2021_238_MOESM1_ESM.pdf
View BVdb publication page