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rs119482081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.1 Hereditary sensory neuropathy, type 1
(G;G) 0 common in clinvar


Make rs119482081(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position92080045
GeneSPTLC1
is asnp
is mentioned by
dbSNPrs119482081
dbSNP (old)rs119482081
ClinGenrs119482081
ebirs119482081
HLIrs119482081
Exacrs119482081
Gnomadrs119482081
Varsomers119482081
Maprs119482081
PheGenIrs119482081
Biobankrs119482081
1000 genomesrs119482081
hgdprs119482081
ensemblrs119482081
gopubmedrs119482081
geneviewrs119482081
scholarrs119482081
googlers119482081
pharmgkbrs119482081
gwascentralrs119482081
openSNPrs119482081
23andMers119482081
23andMe allrs119482081
SNP Nexus

SNPshotrs119482081
SNPdbers119482081
MSV3drs119482081
GWAS Ctlgrs119482081
Max Magnitude6.1

rs119482081, also known as c.398G>A, p.Cys133Tyr and C133Y, represents a rare mutation in the SPTLC1 gene on chromosome 9.

Inherited in a dominant manner, the rs119482081(A) mutation causes hereditary sensory neuropathy, type 1. This particular mutation is best known as the one carried by the Deater family, a large extended kindred originally from Germany but now living primarily in Pennsylvania and adjacent states of the US. This family has established the Deater Foundation, dedicated to research and treatment of hereditary neuropathies such as those caused by their and other SPTLC1 gene mutations.[PMID 11242106]; news article

As reported in [PMID 12417569OA-icon.png], in this family, the age of onset of the disease is usually in the second or third decade. The symptoms begin with subtle loss of pain and temperature perception and are followed by ulcers in the toes and fingers. Symptom onset is earlier and progresses faster in men than in women. Absence of a pinprick response is observed in the early teens, even in asymptomatic patients carrying the disease haplotype. Muscle weakness and atrophy are eventually evident in most patients and may be very severe, requiring mechanical assistance such as the use of splints and crutches. In the advanced cases, sensory potentials are absent, and motor nerve conduction velocities are decreased in the lower extremities.

OMIM605712
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119482081(A;A)
Alt rs119482081(A;A)
Reference Rs119482081(G;G)
Significance Pathogenic
Disease Neuropathy hereditary sensory and autonomic type 1
Variation info
Gene SPTLC1
CLNDBN Neuropathy hereditary sensory and autonomic type 1
Reversed 1
HGVS NC_000009.11:g.94842327C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005067.2,