rs137854556
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.5 | Neurofibromatosis type 1 |
(C;G) | 5.5 | Neurofibromatosis type 1 |
(G;G) | 0 | common in clinvar |
Make rs137854556(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 31235729 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs137854556 |
dbSNP (classic) | rs137854556 |
ClinGen | rs137854556 |
ebi | rs137854556 |
HLI | rs137854556 |
Exac | rs137854556 |
Gnomad | rs137854556 |
Varsome | rs137854556 |
LitVar | rs137854556 |
Map | rs137854556 |
PheGenI | rs137854556 |
Biobank | rs137854556 |
1000 genomes | rs137854556 |
hgdp | rs137854556 |
ensembl | rs137854556 |
geneview | rs137854556 |
scholar | rs137854556 |
rs137854556 | |
pharmgkb | rs137854556 |
gwascentral | rs137854556 |
openSNP | rs137854556 |
23andMe | rs137854556 |
SNPshot | rs137854556 |
SNPdbe | rs137854556 |
MSV3d | rs137854556 |
GWAS Ctlg | rs137854556 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs137854556(A;A) rs137854556(C;C) |
Alt | rs137854556(A;A) rs137854556(C;C) |
Reference | Rs137854556(G;G) |
Significance | Pathogenic |
Disease | not provided Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | not provided Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29562747G>A; NC_000017.10:g.29562747G>C |
CLNSRC | UniProtKB (protein) UniProtKB (variants) OMIM Allelic Variant |
CLNACC | RCV000059193.2, RCV000213660.1, RCV000000381.3, |
[PMID 10712197] Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
[PMID 15060124] Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.