chr21:33039603:A>C Detail (hg19) (SOD1)

Information

Genome

Assembly Position
hg19 chr21:33,039,603-33,039,603
hg38 chr21:31,667,290-31,667,290 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000454.4:c.272A>C NP_000445.1:p.Asp91Ala
Ensemble ENST00000270142.11:c.272A>C ENST00000270142.11:p.Asp91Ala
ENST00000389995.4:c.215A>C ENST00000389995.4:p.Asp72Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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
Conflicting interpretations of pathogenicity 2024-03-06 criteria provided, conflicting interpretations amyotrophic lateral sclerosis type 1 germline unknown Detail
Pathogenic 2007-04-10 no assertion criteria provided Amyotrophic lateral sclerosis 1, autosomal recessive germline Detail
Conflicting interpretations of pathogenicity 2024-04-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Pathogenic 2023-03-30 criteria provided, multiple submitters, no conflicts amyotrophic lateral sclerosis germline Detail
Likely pathogenic 2024-01-16 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
<0.001 Progressive cGVHD In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a ne... BeFree 15789135 Detail
0.002 Impaired cognition In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a ne... BeFree 15789135 Detail
<0.001 Progressive Neoplastic Disease In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a ne... BeFree 15789135 Detail
0.438 amyotrophic lateral sclerosis Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic la... BeFree 11220750 Detail
0.438 amyotrophic lateral sclerosis Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation sha... BeFree 9817920 Detail
0.438 amyotrophic lateral sclerosis To delineate ALS associated with this particular CuZn-SOD mutation from ALS with... BeFree 10869061 Detail
0.520 AMYOTROPHIC LATERAL SCLEROSIS 1 The Aspartate-90-Alanine (D90A) mutation on SOD-1 gene, the only known change ca... BeFree 12710511 Detail
0.438 amyotrophic lateral sclerosis Differential corticospinal tract degeneration in homozygous 'D90A' SOD-1 ALS and... BeFree 21515558 Detail
0.001 Paresis The Aspartate-90-Alanine (D90A) mutation on SOD-1 gene, the only known change ca... BeFree 12710511 Detail
0.520 AMYOTROPHIC LATERAL SCLEROSIS 1 Expression, purification, and characterization of a familial amyotrophic lateral... BeFree 9749537 Detail
0.438 amyotrophic lateral sclerosis Abnormal cortical excitability in sporadic but not homozygous D90A SOD1 ALS. BeFree 16107368 Detail
0.011 Amyotrophic Lateral Sclerosis, Sporadic D90A heterozygosity in the SOD1 gene is associated with familial and apparently ... BeFree 8909456 Detail
0.438 amyotrophic lateral sclerosis Motor system abnormalities in heterozygous relatives of a D90A homozygous CuZn-S... BeFree 10540007 Detail
0.438 amyotrophic lateral sclerosis Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upp... BeFree 19685200 Detail
0.164 motor neuron disease Motor neuron disease in mice expressing the wild type-like D90A mutant superoxid... BeFree 17146286 Detail
<0.001 Atrophy, Muscular, Spinobulbar Granular inclusions were also found in carriers of SOD1 mutations and in spinobu... BeFree 20644736 Detail
0.438 amyotrophic lateral sclerosis Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D... BeFree 11127534 Detail
0.520 AMYOTROPHIC LATERAL SCLEROSIS 1 The free radical-generating function of a familial amyotrophic lateral sclerosis... BeFree 9891852 Detail
0.520 AMYOTROPHIC LATERAL SCLEROSIS 1 Coexistence of dominant and recessive familial amyotrophic lateral sclerosis wit... BeFree 10809943 Detail
0.438 amyotrophic lateral sclerosis Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neu... BeFree 24591457 Detail
0.438 amyotrophic lateral sclerosis Distinct cerebral lesions in sporadic and 'D90A' SOD1 ALS: studies with [11C]flu... BeFree 15843422 Detail
0.438 amyotrophic lateral sclerosis We describe two families with ALS and one apparently sporadic ALS patient who ar... BeFree 8909456 Detail
0.438 amyotrophic lateral sclerosis Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Rus... BeFree 11284995 Detail
0.438 amyotrophic lateral sclerosis D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases... BeFree 12442272 Detail
0.520 AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization. UNIPROT 18301754 Detail
0.438 amyotrophic lateral sclerosis ALS-patients with a SOD1 gene mutation appear as a distinct metabolic entity in ... BeFree 22264771 Detail
0.011 Amyotrophic Lateral Sclerosis, Sporadic A screening for superoxide dismutase-1 D90A mutation in Italian patients with sp... BeFree 12710511 Detail
0.438 amyotrophic lateral sclerosis We propose that there is an abnormality of intracortical or intraspinal inhibiti... BeFree 15170611 Detail
0.438 amyotrophic lateral sclerosis Diffusion tensor imaging in sporadic and familial (D90A SOD1) forms of amyotroph... BeFree 19139308 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) AND Amyotrophic lateral sclerosis type 1 ClinVar Detail
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) AND Amyotrophic lateral sclerosis 1, autosomal recessive ClinVar Detail
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) AND not provided ClinVar Detail
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) AND Amyotrophic lateral sclerosis ClinVar Detail
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) AND SOD1-related disorder ClinVar Detail
NA DisGeNET Detail
In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense muta... DisGeNET Detail
In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense muta... DisGeNET Detail
In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense muta... DisGeNET Detail
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis fami... DisGeNET Detail
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder:... DisGeNET Detail
To delineate ALS associated with this particular CuZn-SOD mutation from ALS without mutations, we pe... DisGeNET Detail
The Aspartate-90-Alanine (D90A) mutation on SOD-1 gene, the only known change causing recessive fami... DisGeNET Detail
Differential corticospinal tract degeneration in homozygous 'D90A' SOD-1 ALS and sporadic ALS. DisGeNET Detail
The Aspartate-90-Alanine (D90A) mutation on SOD-1 gene, the only known change causing recessive fami... DisGeNET Detail
Expression, purification, and characterization of a familial amyotrophic lateral sclerosis-associate... DisGeNET Detail
Abnormal cortical excitability in sporadic but not homozygous D90A SOD1 ALS. DisGeNET Detail
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic... DisGeNET Detail
Motor system abnormalities in heterozygous relatives of a D90A homozygous CuZn-SOD ALS patient of fi... DisGeNET Detail
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyo... DisGeNET Detail
Motor neuron disease in mice expressing the wild type-like D90A mutant superoxide dismutase-1. DisGeNET Detail
Granular inclusions were also found in carriers of SOD1 mutations and in spinobulbar muscular atroph... DisGeNET Detail
Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutatio... DisGeNET Detail
The free radical-generating function of a familial amyotrophic lateral sclerosis-associated D90A Cu,... DisGeNET Detail
Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn sup... DisGeNET Detail
Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) sy... DisGeNET Detail
Distinct cerebral lesions in sporadic and 'D90A' SOD1 ALS: studies with [11C]flumazenil PET. DisGeNET Detail
We describe two families with ALS and one apparently sporadic ALS patient who are heterozygous for t... DisGeNET Detail
Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia. DisGeNET Detail
D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a... DisGeNET Detail
SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization. DisGeNET Detail
ALS-patients with a SOD1 gene mutation appear as a distinct metabolic entity in the CSF, in particul... DisGeNET Detail
A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic l... DisGeNET Detail
We propose that there is an abnormality of intracortical or intraspinal inhibition in a subgroup of ... DisGeNET Detail
Diffusion tensor imaging in sporadic and familial (D90A SOD1) forms of amyotrophic lateral sclerosis... 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
rs80265967 dbSNP
Genome
hg19
Position
chr21:33,039,603-33,039,603
Variant Type
snv
Reference Allele
A
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121254
Allele Counts in All Race (ExAC)
136
Heterozygous Counts in All Race (ExAC)
136
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0011216124828871625
Genome browser