chr1:11078893:A>G Detail (hg19) (TARDBP)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr1:11,078,893-11,078,893
hg38	chr1:11,018,836-11,018,836 View the variant detail on this assembly version.

HGVS

TARDBP

Type	Transcript	Protein
RefSeq	NM_007375.3:c.506A>G	NP_031401.1:p.Asp169Gly
Ensemble	ENST00000649624.1:c.506A>G	ENST00000649624.1:p.Asp169Gly
	ENST00000629725.2:c.506A>G	ENST00000629725.2:p.Asp169Gly
	ENST00000639083.1:c.506A>G	ENST00000639083.1:p.Asp169Gly
	ENST00000616545.4:c.506A>G	ENST00000616545.4:p.Asp169Gly
	ENST00000315091.7:c.506A>G	ENST00000315091.7:p.Asp169Gly
	ENST00000621790.4:c.506A>G	ENST00000621790.4:p.Asp169Gly
	ENST00000240185.8:c.506A>G	ENST00000240185.8:p.Asp169Gly

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

TARDBP

Type	Database	ID	Link
Gene	MIM	605078	OMIM
	HGNC	11571	HGNC
	Ensembl	ENSG00000120948	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	2008-05-01	no assertion criteria provided	amyotrophic lateral sclerosis type 10	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)	NA	CLINVAR		Detail
0.240	AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)	TARDBP mutations in individuals with sporadic and familial amyotrophic lateral s...	UNIPROT	18372902	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly) AND Amyotrophic lateral sclerosis type 10	ClinVar	Detail
NA	DisGeNET	Detail
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.	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: rs80356717 dbSNP
Genome: hg19
Position: chr1:11,078,893-11,078,893
Variant Type: snv
Reference Allele: A
Alternative Allele: G

Genome browser