chr1:11022352:G>A Detail (hg38) (MASP2, TARDBP)

Information

Genome

Assembly Position
hg19 chr1:11,082,409-11,082,409 View the variant detail on this assembly version.
hg38 chr1:11,022,352-11,022,352

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000700088.1:c.1397-159C>T
Type Transcript Protein
RefSeq NM_007375.3:c.943G>A NP_031401.1:p.Ala315Thr
Ensemble ENST00000240185.8:c.943G>A ENST00000240185.8:p.Ala315Thr
ENST00000315091.7:c.832+111G>A
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Amyotrophic lateral sclerosis germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-03-31 criteria provided, single submitter amyotrophic lateral sclerosis type 10 germline Detail
Pathogenic 2023-12-18 criteria provided, single submitter amyotrophic lateral sclerosis type 10,TARDBP-related frontotemporal dementia germline Detail
Pathogenic 2023-12-18 criteria provided, single submitter amyotrophic lateral sclerosis type 10,TARDBP-related frontotemporal dementia germline Detail
Pathogenic 2024-04-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.380 amyotrophic lateral sclerosis Expression of normal human TDP-43 in all C. elegans neurons causes moderate moto... BeFree 21123567 Detail
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 Familial Motor Neuron Disease TDP-43 A315T mutation in familial motor neuron disease. BeFree 18288693 Detail
0.380 amyotrophic lateral sclerosis Premature death of TDP-43 (A315T) transgenic mice due to gastrointestinal compli... BeFree 23317354 Detail
0.019 Pick Disease of the Brain Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43... BeFree 23798570 Detail
0.380 amyotrophic lateral sclerosis Careful comparison of the wild-type TDP-43 (Wt) and the three mutant TDP-43 pept... BeFree 23138004 Detail
0.179 Frontotemporal Lobar Degeneration ALS/FTLD-associated missense mutant proteins (A315T, Q331K, and M337V) were part... BeFree 23742895 Detail
0.035 frontotemporal dementia Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43... BeFree 23798570 Detail
0.380 amyotrophic lateral sclerosis ALS/FTLD-associated missense mutant proteins (A315T, Q331K, and M337V) were part... BeFree 23742895 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) AND Amyotrophic lateral sclerosis type 10 ClinVar Detail
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) AND not provided ClinVar Detail
Expression of normal human TDP-43 in all C. elegans neurons causes moderate motor defects, whereas A... DisGeNET 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
TDP-43 A315T mutation in familial motor neuron disease. DisGeNET Detail
Premature death of TDP-43 (A315T) transgenic mice due to gastrointestinal complications prior to dev... DisGeNET Detail
Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in v... DisGeNET Detail
Careful comparison of the wild-type TDP-43 (Wt) and the three mutant TDP-43 peptides: an ALS-related... DisGeNET Detail
ALS/FTLD-associated missense mutant proteins (A315T, Q331K, and M337V) were partially mislocalized t... DisGeNET Detail
Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in v... DisGeNET Detail
ALS/FTLD-associated missense mutant proteins (A315T, Q331K, and M337V) were partially mislocalized t... 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
rs80356726 dbSNP
Genome
hg38
Position
chr1:11,022,352-11,022,352
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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