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rs137854566

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 5.5 Neurofibromatosis type 1
(C;T) 5.5 Neurofibromatosis type 1
(G;T) 5.5 Neurofibromatosis type 1
(T;T) 0 common in clinvar


Make rs137854566(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position31229146
GeneNF1
is asnp
is mentioned by
dbSNPrs137854566
dbSNP (old)rs137854566
ClinGenrs137854566
ebirs137854566
HLIrs137854566
Exacrs137854566
Gnomadrs137854566
Varsomers137854566
LitVarrs137854566
Maprs137854566
PheGenIrs137854566
Biobankrs137854566
1000 genomesrs137854566
hgdprs137854566
ensemblrs137854566
gopubmedrs137854566
geneviewrs137854566
scholarrs137854566
googlers137854566
pharmgkbrs137854566
gwascentralrs137854566
openSNPrs137854566
23andMers137854566
23andMe allrs137854566
SNPshotrs137854566
SNPdbers137854566
MSV3drs137854566
GWAS Ctlgrs137854566
Max Magnitude5.5

all possible mutations are known at this variant: c.2531T>A, c.2531T>C and c.2531T>G, also known as p.Leu844His, p.Leu844Pro and p.Leu844Arg, respectively, and all are considered pathogenic for neurofibromatosis type 1.

see NF1

OMIM613113
Desc
Variant0043
Relatedalso
ClinVar
Risk rs137854566(C;C) rs137854566(G;G)
Alt rs137854566(C;C) rs137854566(G;G)
Reference Rs137854566(T;T)
Significance Pathogenic
Disease not provided Neurofibromatosis
Variation info
Gene NF1
CLNDBN not provided Neurofibromatosis, type 1
Reversed 0
HGVS NC_000017.10:g.29556164T>C; NC_000017.10:g.29556164T>G
CLNSRC UniProtKB (protein) UniProtKB (variants) OMIM Allelic Variant
CLNACC RCV000059174.1, RCV000000404.4,


[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.