chr1:11082508:G>T Detail (hg19) (MASP2, TARDBP)

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

Genome

Assembly	Position
hg19	chr1:11,082,508-11,082,508
hg38	chr1:11,022,451-11,022,451 View the variant detail on this assembly version.

HGVS

MASP2
TARDBP

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000700088.1:c.1397-258C>A

Type	Transcript	Protein
RefSeq	NM_007375.3:c.1042G>T	NP_031401.1:p.Gly348Cys
Ensemble	ENST00000621790.4:c.859+183G>T
	ENST00000240185.8:c.1042G>T	ENST00000240185.8:p.Gly348Cys
	ENST00000649624.1:c.768+274G>T
	ENST00000629725.2:c.841+201G>T
	ENST00000639083.1:c.1042G>T	ENST00000639083.1:p.Gly348Cys
	ENST00000616545.4:c.841+201G>T
	ENST00000315091.7:c.832+210G>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

MASP2
TARDBP

Type	Database	ID	Link
Gene	MIM	605102	OMIM
	HGNC	6902	HGNC
	Ensembl	ENSG00000009724	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

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
Likely pathogenic	2020-03-31	criteria provided, single submitter	amyotrophic lateral sclerosis type 10	germline	Detail
Pathogenic	2021-10-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-07-27	criteria provided, single submitter	TARDBP-related frontotemporal dementia,amyotrophic lateral sclerosis type 10	germline	Detail
Pathogenic	2023-07-27	criteria provided, single submitter	TARDBP-related frontotemporal dementia,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
<0.001	General Paralysis	We have generated Caenorhabditis elegans and zebrafish animal models expressing ...	BeFree	22848727	Detail
0.186	amyotrophic lateral sclerosis	We have generated Caenorhabditis elegans and zebrafish animal models expressing ...	BeFree	22848727	Detail
<0.001	General Paralysis	We have generated Caenorhabditis elegans and zebrafish animal models expressing ...	BeFree	22848727	Detail
0.380	amyotrophic lateral sclerosis	We have generated Caenorhabditis elegans and zebrafish animal models expressing ...	BeFree	22848727	Detail
0.240	AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)	TARDBP mutations in individuals with sporadic and familial amyotrophic lateral s...	UNIPROT	18372902	Detail
0.001	Impaired cognition	We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 sm...	BeFree	18779421	Detail
<0.001	respiratory failure	We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 sm...	BeFree	18779421	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) AND Amyotrophic lateral sclerosis type 10	ClinVar	Detail
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) AND not provided	ClinVar	Detail
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) AND multiple conditions	ClinVar	Detail
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 ...	DisGeNET	Detail
We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 ...	DisGeNET	Detail
We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 ...	DisGeNET	Detail
We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 ...	DisGeNET	Detail
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.	DisGeNET	Detail
We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 small kindreds with a ...	DisGeNET	Detail
We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 small kindreds with a ...	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: rs80356733 dbSNP
Genome: hg19
Position: chr1:11,082,508-11,082,508
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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