chr21:33039620:G>A Detail (hg19) (SOD1)

Information

Genome

Assembly Position
hg19 chr21:33,039,620-33,039,620
hg38 chr21:31,667,307-31,667,307 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000454.4:c.289G>A NP_000445.1:p.Asp97Asn
Ensemble ENST00000270142.11:c.289G>A ENST00000270142.11:p.Asp97Asn
ENST00000389995.4:c.232G>A ENST00000389995.4:p.Asp78Asn
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 Uncertain significance
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 2001-02-01 no assertion criteria provided Amyotrophic lateral sclerosis 1, autosomal recessive germline Detail
Uncertain significance 2018-11-20 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.438 amyotrophic lateral sclerosis Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic la... BeFree 11220750 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000454.5(SOD1):c.289G>A (p.Asp97Asn) AND Amyotrophic lateral sclerosis 1, autosomal recessive ClinVar Detail
NM_000454.5(SOD1):c.289G>A (p.Asp97Asn) AND not provided ClinVar Detail
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis fami... 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
rs121912459 dbSNP
Genome
hg19
Position
chr21:33,039,620-33,039,620
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
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)
121366
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.2958159616367024E-5
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