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rs137854556

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854556(C;C)
Make rs137854556(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position31235729
GeneNF1
is asnp
is mentioned by
dbSNPrs137854556
ebirs137854556
HLIrs137854556
Exacrs137854556
Varsomers137854556
Maprs137854556
PheGenIrs137854556
hapmaprs137854556
1000 genomesrs137854556
hgdprs137854556
ensemblrs137854556
gopubmedrs137854556
geneviewrs137854556
scholarrs137854556
googlers137854556
pharmgkbrs137854556
gwascentralrs137854556
openSNPrs137854556
23andMers137854556
23andMe allrs137854556
SNP Nexus

SNPshotrs137854556
SNPdbers137854556
MSV3drs137854556
GWAS Ctlgrs137854556
Max Magnitude0
OMIM613113
Desc
Variant0022
Relatedalso
ClinVar
Risk rs137854556(A,C;A,C)
Alt rs137854556(A,C;A,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 (variants) OMIM Allelic Variant
CLNACC RCV000059193.1, RCV000213660.1, RCV000000381.3,


[PMID 10712197OA-icon.png] 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 15060124OA-icon.png] 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.