chr21:31667298:G>C Detail (hg38) (SOD1)

Information

Genome

Assembly Position
hg19 chr21:33,039,611-33,039,611 View the variant detail on this assembly version.
hg38 chr21:31,667,298-31,667,298

HGVS

Type Transcript Protein
RefSeq NM_000454.4:c.280G>C NP_000445.1:p.Gly94Arg
Ensemble ENST00000270142.11:c.280G>C ENST00000270142.11:p.Gly94Arg
ENST00000389995.4:c.223G>C ENST00000389995.4:p.Gly75Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
Likely pathogenic 2022-02-18 criteria provided, single submitter amyotrophic lateral sclerosis type 1 germline Detail
Pathogenic 2016-08-31 criteria provided, single submitter motor neuron disease unknown 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 In this study we have investigated the effects of over-expressing wild-type SOD1... BeFree 12531528 Detail
0.520 AMYOTROPHIC LATERAL SCLEROSIS 1 The structure and unfolding of metal-free (apo) human wild-type SOD1 and three p... BeFree 19805550 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) AND Amyotrophic lateral sclerosis type 1 ClinVar Detail
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) AND Motor neuron disease ClinVar Detail
NA DisGeNET Detail
In this study we have investigated the effects of over-expressing wild-type SOD1 and two mutant form... DisGeNET Detail
The structure and unfolding of metal-free (apo) human wild-type SOD1 and three pathogenic variants o... 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
rs121912437 dbSNP
Genome
hg38
Position
chr21:31,667,298-31,667,298
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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