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rs387906709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7.9 Amyotrophic lateral sclerosis, type 15
(A;C) 7.9 Amyotrophic lateral sclerosis, type 15
(C;C) 0 common in clinvar
(C;T) 7.9 Heterogenous neurodegeneration disorder
(T;T) 7.9 Heterogeneous neurodegeneration disorder
ReferenceGRCh38 38.1/141
ChromosomeX
Position56565363
GeneUBQLN2
is asnp
is mentioned by
dbSNPrs387906709
ClinGenrs387906709
ebirs387906709
HLIrs387906709
Exacrs387906709
Varsomers387906709
Maprs387906709
PheGenIrs387906709
hapmaprs387906709
1000 genomesrs387906709
hgdprs387906709
ensemblrs387906709
gopubmedrs387906709
geneviewrs387906709
scholarrs387906709
googlers387906709
pharmgkbrs387906709
gwascentralrs387906709
openSNPrs387906709
23andMers387906709
23andMe allrs387906709
SNP Nexus

SNPshotrs387906709
SNPdbers387906709
MSV3drs387906709
GWAS Ctlgrs387906709
Max Magnitude7.9

Two causative, dominantly inherited mutations have been mapped to this location on the X chromosome:

  • c.1490C>A, p.Pro497His, P497H: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
  • c.1490C>T, p.Pro497Leu, P497L: Heterogeneous neurodegeneration; [PMID 24771548OA-icon.png]; news article about book by affected family here


Due to being X-linked, males carrying either mutation typically exhibit an earlier age of onset than females, and to some extent, more severe symptoms (and higher penetrance). However, UBQLN2 mutation status does not always predict clinical outcome; very delayed or incomplete penetrance of UBQLN2 mutations altering the PXX repeat domain is sometimes observed in mutation carriers.[PMID 21857683OA-icon.png]

Note: to our knowledge, this SNP is not tested by the major "$99" direct-to-consumer genotyping companies such as Ancestry.com or 23andMe, however, it is normally included in exome data such as that from Genos.


ClinVar
Risk Rs387906709(A;A) Rs387906709(T;T)
Alt Rs387906709(A;A) Rs387906709(T;T)
Reference Rs387906709(C;C)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 15
Variation info
Gene UBQLN2
CLNDBN Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Reversed 0
HGVS NC_000023.10:g.56591796C>A; NC_000023.10:g.56591796C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022842.13, RCV000144928.4,