chr21:31668493:T>A Detail (hg38) (SOD1)

Information

Genome

Assembly Position
hg19 chr21:33,040,806-33,040,806 View the variant detail on this assembly version.
hg38 chr21:31,668,493-31,668,493

HGVS

Type Transcript Protein
RefSeq NM_000454.4:c.380T>A NP_000445.1:p.Leu127Ter
Ensemble ENST00000270142.11:c.380T>A ENST00000270142.11:p.Leu127Ter
ENST00000389995.4:c.323T>A ENST00000389995.4:p.Leu108Ter
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 1997-05-01 no assertion criteria provided 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
Annotation

Annotations

DescrptionSourceLinks
NM_000454.5(SOD1):c.380T>A (p.Leu127Ter) AND Amyotrophic lateral sclerosis type 1 ClinVar Detail
NA 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
rs121912454 dbSNP
Genome
hg38
Position
chr21:31,668,493-31,668,493
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser