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rs80356508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356508(A;A)
Make rs80356508(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position58081668
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356508
ebirs80356508
HLIrs80356508
Exacrs80356508
Varsomers80356508
Maprs80356508
PheGenIrs80356508
hapmaprs80356508
1000 genomesrs80356508
hgdprs80356508
ensemblrs80356508
gopubmedrs80356508
geneviewrs80356508
scholarrs80356508
googlers80356508
pharmgkbrs80356508
gwascentralrs80356508
openSNPrs80356508
23andMers80356508
23andMe allrs80356508
SNP Nexus

SNPshotrs80356508
SNPdbers80356508
MSV3drs80356508
GWAS Ctlgrs80356508
Max Magnitude0
OMIM603381
Desc
Variant0011
Relatedalso
ClinVar
Risk rs80356508(A;A)
Alt rs80356508(A;A)
Reference rs80356508(G;G)
Significance Pathogenic
Disease Larsen syndrome Larsen syndrome
Variation info
Gene FLNB
CLNDBN Larsen syndrome Larsen syndrome, dominant type
Reversed 0
HGVS NC_000003.11:g.58067395G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030662.3, RCV000030672.2,


[PMID 16648377OA-icon.png] Mutations responsible for Larsen syndrome cluster in the FLNB protein.


[PMID 16801345OA-icon.png] A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.