chr21:33039611:G>T Detail (hg19) (SOD1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

SOD1

Type	Transcript	Protein
RefSeq	NM_000454.4:c.280G>T	NP_000445.1:p.Gly94Cys
Ensemble	ENST00000270142.11:c.280G>T	ENST00000270142.11:p.Gly94Cys
	ENST00000389995.4:c.223G>T	ENST00000389995.4:p.Gly75Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

SOD1

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	2023-10-22	criteria provided, single submitter	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
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

Descrption	Source	Links
NM_000454.5(SOD1):c.280G>T (p.Gly94Cys) AND Amyotrophic lateral sclerosis type 1	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: hg19
Position: chr21:33,039,611-33,039,611
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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