chr1:11082610:G>C Detail (hg19) (MASP2, TARDBP)

Information

Genome

Assembly Position
hg19 chr1:11,082,610-11,082,610
hg38 chr1:11,022,553-11,022,553 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000700088.1:c.1397-360C>G
Type Transcript Protein
RefSeq NM_007375.3:c.1144G>C NP_031401.1:p.Ala382Pro
Ensemble ENST00000639083.1:c.1144G>C ENST00000639083.1:p.Ala382Pro
ENST00000616545.4:c.841+303G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) NA CLINVAR Detail
0.032 GRN-related frontotemporal dementia Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a... BeFree 22398199 Detail
<0.001 Tic, Vocal In that report, we identified a 53-year-old man carrying a homozygous A382T miss... BeFree 21803454 Detail
0.380 amyotrophic lateral sclerosis High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amy... BeFree 21418058 Detail
0.179 Frontotemporal Lobar Degeneration Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a... BeFree 22398199 Detail
0.004 Presenile dementia Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p... BeFree 20697052 Detail
0.380 amyotrophic lateral sclerosis A founder TARDBP mutation (p.Ala382Thr) was recently identified as the cause of ... BeFree 21667065 Detail
<0.001 Central neuroblastoma In the current study, we analyzed protein turnover and subcellular distribution ... BeFree 24477737 Detail
0.017 dementia Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p... BeFree 20697052 Detail
0.380 amyotrophic lateral sclerosis The TARDBP p.A382T missense mutation accounts for approximately one-third of all... BeFree 21220647 Detail
0.002 Parkinsonian Disorders The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's d... BeFree 23546887 Detail
0.380 amyotrophic lateral sclerosis Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p... BeFree 20697052 Detail
<0.001 neuroblastoma In the current study, we analyzed protein turnover and subcellular distribution ... BeFree 24477737 Detail
0.380 amyotrophic lateral sclerosis A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrom... BeFree 21803454 Detail
0.019 Pick Disease of the Brain In that report, we identified a 53-year-old man carrying a homozygous A382T miss... BeFree 21803454 Detail
0.380 amyotrophic lateral sclerosis Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a... BeFree 22398199 Detail
0.035 frontotemporal dementia In that report, we identified a 53-year-old man carrying a homozygous A382T miss... BeFree 21803454 Detail
<0.001 Extrapyramidal sign Our findings suggest that the clinical presentation of the p.A382T TARDBP gene m... BeFree 23546887 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting ... DisGeNET Detail
In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the... DisGeNET Detail
High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral scl... DisGeNET Detail
Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting ... DisGeNET Detail
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mu... DisGeNET Detail
A founder TARDBP mutation (p.Ala382Thr) was recently identified as the cause of ~30% of ALS cases in... DisGeNET Detail
In the current study, we analyzed protein turnover and subcellular distribution of wild-type TDP-43 ... DisGeNET Detail
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mu... DisGeNET Detail
The TARDBP p.A382T missense mutation accounts for approximately one-third of all ALS cases in this i... DisGeNET Detail
The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other deg... DisGeNET Detail
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mu... DisGeNET Detail
In the current study, we analyzed protein turnover and subcellular distribution of wild-type TDP-43 ... DisGeNET Detail
A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, ext... DisGeNET Detail
In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the... DisGeNET Detail
Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting ... DisGeNET Detail
In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the... DisGeNET Detail
Our findings suggest that the clinical presentation of the p.A382T TARDBP gene mutation may include ... 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
rs367543041 dbSNP
Genome
hg19
Position
chr1:11,082,610-11,082,610
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser