chr21:33032096:C>T Detail (hg19) (SOD1, SOD1-DT)

Information

Genome

Assembly Position
hg19 chr21:33,032,096-33,032,096
hg38 chr21:31,659,783-31,659,783 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000454.4:c.14C>T NP_000445.1:p.Ala5Val
Ensemble ENST00000270142.11:c.14C>T ENST00000270142.11:p.Ala5Val
ENST00000389995.4:c.14C>T ENST00000389995.4:p.Ala5Val
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 2024-01-29 criteria provided, multiple submitters, no conflicts amyotrophic lateral sclerosis type 1 germline unknown Detail
Pathogenic 2023-06-29 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-09-12 criteria provided, single submitter SOD1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.520 AMYOTROPHIC LATERAL SCLEROSIS 1 NA CLINVAR Detail
0.520 AMYOTROPHIC LATERAL SCLEROSIS 1 Prognosis in familial amyotrophic lateral sclerosis: progression and survival in... BeFree 9008494 Detail
0.438 amyotrophic lateral sclerosis To determine the role of advanced glycation endproducts (AGE) in the pathogenesi... BeFree 10090670 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
0.001 Motor Neuron Disease, Lower The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progres... BeFree 19176896 Detail
0.022 Neurodegenerative Disorders We applied this methodology to SOD1, wild-type, and Ala4Val mutant (A4V), a muta... BeFree 22589106 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
0.520 AMYOTROPHIC LATERAL SCLEROSIS 1 A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rap... BeFree 7951249 Detail
0.438 amyotrophic lateral sclerosis We applied this methodology to SOD1, wild-type, and Ala4Val mutant (A4V), a muta... BeFree 22589106 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) AND Amyotrophic lateral sclerosis type 1 ClinVar Detail
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) AND not provided ClinVar Detail
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) AND SOD1-related disorder ClinVar Detail
NA DisGeNET Detail
Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu10... DisGeNET Detail
To determine the role of advanced glycation endproducts (AGE) in the pathogenesis of familial amyotr... 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
The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progressive dominant form o... DisGeNET Detail
We applied this methodology to SOD1, wild-type, and Ala4Val mutant (A4V), a mutation found in amyotr... 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
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive fam... DisGeNET Detail
We applied this methodology to SOD1, wild-type, and Ala4Val mutant (A4V), a mutation found in amyotr... 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
rs121912442 dbSNP
Genome
hg19
Position
chr21:33,032,096-33,032,096
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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