rs80356503

Orientation

plus

Stabilized

plus

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

Make rs80356503(A;A)

Make rs80356503(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

58138491

Gene

FLNB

is a	snp
is	mentioned by
dbSNP	rs80356503
dbSNP (classic)	rs80356503
ClinGen	rs80356503
ebi	rs80356503
HLI	rs80356503
Exac	rs80356503
Gnomad	rs80356503
Varsome	rs80356503
LitVar	rs80356503
Map	rs80356503
PheGenI	rs80356503
Biobank	rs80356503
1000 genomes	rs80356503
hgdp	rs80356503
ensembl	rs80356503
geneview	rs80356503
scholar	rs80356503
google	rs80356503
pharmgkb	rs80356503
gwascentral	rs80356503
openSNP	rs80356503
23andMe	rs80356503
SNPshot	rs80356503
SNPdbe	rs80356503
MSV3d	rs80356503
GWAS Ctlg	rs80356503

Max Magnitude

0

OMIM	603381
Desc
Variant	0012
Related	also

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 UniProtKB (protein)
CLNACC	RCV000030663.3, RCV000030671.2,

[PMID 16648377] Mutations responsible for Larsen syndrome cluster in the FLNB protein.

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