chr21:33039669:T>C Detail (hg19) (SOD1)

Information

Genome

Assembly Position
hg19 chr21:33,039,669-33,039,669
hg38 chr21:31,667,356-31,667,356 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000454.4:c.338T>C NP_000445.1:p.Ile113Thr
Ensemble ENST00000270142.11:c.338T>C ENST00000270142.11:p.Ile113Thr
ENST00000389995.4:c.281T>C ENST00000389995.4:p.Ile94Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 147450 OMIM
HGNC 11179 HGNC
Ensembl ENSG00000142168 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-09-17 criteria provided, single submitter amyotrophic lateral sclerosis type 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.520 AMYOTROPHIC LATERAL SCLEROSIS 1 NA CLINVAR Detail
0.438 amyotrophic lateral sclerosis A patient is described with a 20 year duration of motor neuron disease, with cli... BeFree 7673954 Detail
0.389 Alzheimer's disease Several causative mutations were identified and confirmed by Sanger sequencing, ... BeFree 25174650 Detail
0.089 Alzheimer's disease Several causative mutations were identified and confirmed by Sanger sequencing, ... BeFree 25174650 Detail
0.003 amyotrophic lateral sclerosis Several causative mutations were identified and confirmed by Sanger sequencing, ... BeFree 25174650 Detail
0.438 amyotrophic lateral sclerosis Several causative mutations were identified and confirmed by Sanger sequencing, ... BeFree 25174650 Detail
0.438 amyotrophic lateral sclerosis Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis ass... BeFree 22670877 Detail
0.438 amyotrophic lateral sclerosis Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation. BeFree 20184521 Detail
0.520 AMYOTROPHIC LATERAL SCLEROSIS 1 These data suggest that this case might have been different from an example of f... BeFree 10567054 Detail
0.007 frontotemporal dementia Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis ass... BeFree 22670877 Detail
0.005 Pick Disease of the Brain Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis ass... BeFree 22670877 Detail
0.520 AMYOTROPHIC LATERAL SCLEROSIS 1 Accumulation of neurofilaments and SOD1-immunoreactive products in a patient wit... BeFree 10593307 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000454.5(SOD1):c.338T>C (p.Ile113Thr) AND Amyotrophic lateral sclerosis type 1 ClinVar Detail
NA DisGeNET Detail
A patient is described with a 20 year duration of motor neuron disease, with clinical features of AL... DisGeNET Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2... DisGeNET Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2... DisGeNET Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2... DisGeNET Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2... DisGeNET Detail
Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113... DisGeNET Detail
Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation. DisGeNET Detail
These data suggest that this case might have been different from an example of fALS with Ile 113 Thr... DisGeNET Detail
Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113... DisGeNET Detail
Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113... DisGeNET Detail
Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotroph... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs74315452 dbSNP
Genome
hg19
Position
chr21:33,039,669-33,039,669
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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