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rs80356503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356503(A;A)
Make rs80356503(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position58138491
GeneFLNB
is asnp
is mentioned by
dbSNPrs80356503
ebirs80356503
HLIrs80356503
Exacrs80356503
Varsomers80356503
Maprs80356503
PheGenIrs80356503
hapmaprs80356503
1000 genomesrs80356503
hgdprs80356503
ensemblrs80356503
gopubmedrs80356503
geneviewrs80356503
scholarrs80356503
googlers80356503
pharmgkbrs80356503
gwascentralrs80356503
openSNPrs80356503
23andMers80356503
23andMe allrs80356503
SNP Nexus

SNPshotrs80356503
SNPdbers80356503
MSV3drs80356503
GWAS Ctlgrs80356503
Max Magnitude0
OMIM603381
Desc
Variant0012
Relatedalso
ClinVar
Risk rs80356503(A;A)
Alt rs80356503(A;A)
Reference rs80356503(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.58124218G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030663.3, RCV000030671.2,


[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.