chr1:11082475:A>G Detail (hg19) (MASP2, TARDBP)

Information

Genome

Assembly Position
hg19 chr1:11,082,475-11,082,475
hg38 chr1:11,022,418-11,022,418 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000700088.1:c.1397-225T>C
Type Transcript Protein
RefSeq NM_007375.3:c.1009A>G NP_031401.1:p.Met337Val
Ensemble ENST00000621790.4:c.859+150A>G
ENST00000240185.8:c.1009A>G ENST00000240185.8:p.Met337Val
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
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
Pathogenic 2023-03-15 criteria provided, single submitter amyotrophic lateral sclerosis type 10 germline unknown Detail
Pathogenic 2023-02-18 criteria provided, single submitter amyotrophic lateral sclerosis type 10,TARDBP-related frontotemporal dementia germline Detail
Pathogenic 2023-02-18 criteria provided, single submitter amyotrophic lateral sclerosis type 10,TARDBP-related frontotemporal dementia germline Detail
Pathogenic 2020-10-23 criteria provided, multiple submitters, no conflicts 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
0.240 AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) High frequency of TARDBP gene mutations in Italian patients with amyotrophic lat... UNIPROT 19224587 Detail
0.179 Frontotemporal Lobar Degeneration ALS/FTLD-associated missense mutant proteins (A315T, Q331K, and M337V) were part... BeFree 23742895 Detail
0.380 amyotrophic lateral sclerosis ALS/FTLD-associated missense mutant proteins (A315T, Q331K, and M337V) were part... BeFree 23742895 Detail
0.380 amyotrophic lateral sclerosis Overexpression of ALS-associated p.M337V human TDP-43 in mice worsens disease fe... BeFree 23475610 Detail
0.088 AMYOTROPHIC LATERAL SCLEROSIS 1 TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan. BeFree 20154440 Detail
<0.001 Developmental delay (disorder) Certain mutant forms of TDP-43, such as M337V, are associated with increased low... BeFree 22029574 Detail
0.088 AMYOTROPHIC LATERAL SCLEROSIS 1 To examine the contribution of these potentially toxic mechanisms in vivo, we ge... BeFree 24466128 Detail
0.038 Neurodegenerative Disorders Three different heterozygous missense mutations in exon 6 of TARDBP (p.M337V, p.... BeFree 18802454 Detail
0.380 amyotrophic lateral sclerosis In conclusion, a characteristic clinical phenotype of familial ALS with initial ... BeFree 20154440 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) AND Amyotrophic lateral sclerosis type 10 ClinVar Detail
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) 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
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. DisGeNET Detail
ALS/FTLD-associated missense mutant proteins (A315T, Q331K, and M337V) were partially mislocalized t... DisGeNET Detail
ALS/FTLD-associated missense mutant proteins (A315T, Q331K, and M337V) were partially mislocalized t... DisGeNET Detail
Overexpression of ALS-associated p.M337V human TDP-43 in mice worsens disease features compared to w... DisGeNET Detail
TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan. DisGeNET Detail
Certain mutant forms of TDP-43, such as M337V, are associated with increased low molecular weight (L... DisGeNET Detail
To examine the contribution of these potentially toxic mechanisms in vivo, we generated transgenic m... DisGeNET Detail
Three different heterozygous missense mutations in exon 6 of TARDBP (p.M337V, p.N345K, and p.I383V) ... DisGeNET Detail
In conclusion, a characteristic clinical phenotype of familial ALS with initial bulbar symptoms occu... 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
rs80356730 dbSNP
Genome
hg19
Position
chr1:11,082,475-11,082,475
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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