rs80356503
From SNPedia
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 |
rs80356503 | |
pharmgkb | rs80356503 |
gwascentral | rs80356503 |
openSNP | rs80356503 |
23andMe | rs80356503 |
SNPshot | rs80356503 |
SNPdbe | rs80356503 |
MSV3d | rs80356503 |
GWAS Ctlg | rs80356503 |
Max Magnitude | 0 |
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.