chr21:31659782:G>A Detail (hg38) (SOD1, SOD1-DT)

Information

Genome

Assembly Position
hg19 chr21:33,032,095-33,032,095 View the variant detail on this assembly version.
hg38 chr21:31,659,782-31,659,782

HGVS

Type Transcript Protein
RefSeq NM_000454.4:c.13G>A NP_000445.1:p.Ala5Thr
Ensemble ENST00000270142.11:c.13G>A ENST00000270142.11:p.Ala5Thr
ENST00000389995.4:c.13G>A ENST00000389995.4:p.Ala5Thr
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic amyotrophic lateral sclerosis unknown MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
Pathogenic amyotrophic lateral sclerosis germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-11-23 criteria provided, multiple submitters, no conflicts amyotrophic lateral sclerosis type 1 germline Detail
Pathogenic 2017-03-09 criteria provided, single submitter not provided 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 Instability of mutant Cu/Zn superoxide dismutase (Ala4Thr) associated with famil... BeFree 8830861 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) AND Amyotrophic lateral sclerosis type 1 ClinVar Detail
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) AND not provided ClinVar Detail
NA DisGeNET Detail
Instability of mutant Cu/Zn superoxide dismutase (Ala4Thr) associated with familial amyotrophic late... 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
rs121912444 dbSNP
Genome
hg38
Position
chr21:31,659,782-31,659,782
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser