rs80356506

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs80356506(G;G)

Make rs80356506(G;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

58077235

Gene

FLNB

is a	snp
is	mentioned by
dbSNP	rs80356506
dbSNP (classic)	rs80356506
ClinGen	rs80356506
ebi	rs80356506
HLI	rs80356506
Exac	rs80356506
Gnomad	rs80356506
Varsome	rs80356506
LitVar	rs80356506
Map	rs80356506
PheGenI	rs80356506
Biobank	rs80356506
1000 genomes	rs80356506
hgdp	rs80356506
ensembl	rs80356506
geneview	rs80356506
scholar	rs80356506
google	rs80356506
pharmgkb	rs80356506
gwascentral	rs80356506
openSNP	rs80356506
23andMe	rs80356506
SNPshot	rs80356506
SNPdbe	rs80356506
MSV3d	rs80356506
GWAS Ctlg	rs80356506

Max Magnitude

0

OMIM	603381
Desc
Variant	0004
Related	also

ClinVar
Risk	rs80356506(G;G)
Alt	rs80356506(G;G)
Reference	Rs80356506(T;T)
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.58062962T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030660.3, RCV000030670.2,

[PMID 14991055] Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.