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rs137854552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 8 Neurofibromatosis, type 1
Make rs137854552(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position31334927
GeneNF1
is asnp
is mentioned by
dbSNPrs137854552
ClinGenrs137854552
ebirs137854552
HLIrs137854552
Exacrs137854552
Varsomers137854552
Maprs137854552
PheGenIrs137854552
hapmaprs137854552
1000 genomesrs137854552
hgdprs137854552
ensemblrs137854552
gopubmedrs137854552
geneviewrs137854552
scholarrs137854552
googlers137854552
pharmgkbrs137854552
gwascentralrs137854552
openSNPrs137854552
23andMers137854552
23andMe allrs137854552
SNP Nexus

SNPshotrs137854552
SNPdbers137854552
MSV3drs137854552
GWAS Ctlgrs137854552
Max Magnitude8

rs137854552, also known as c.5839C>T, p.Arg1947Ter and R1947X, represents a mutation in the NF1 gene on chromosome 17.

The rs137854552]](T) allele is considered a mutation leading to neurofibromatosis, and it has been observed in patients from several different ethnicities. While many neurofibromatosis mutations are considered to arise de novo, the relatively high frequency of this mutation compared to others suggests it may be more of a hotspot for mutation in the NF1 gene than others.

OMIM613113
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137854552(T;T)
Alt rs137854552(T;T)
Reference Rs137854552(C;C)
Significance Pathogenic
Disease Neurofibromatosis not provided Hereditary cancer-predisposing syndrome
Variation info
Gene NF1
CLNDBN Neurofibromatosis, type 1 not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.29661945C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000371.4, RCV000418287.1, RCV000492774.1,