chr1:11082358:G>A Detail (hg19) (MASP2, TARDBP)

Information

Genome

Assembly Position
hg19 chr1:11,082,358-11,082,358
hg38 chr1:11,022,301-11,022,301 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000700088.1:c.1397-108C>T
Type Transcript Protein
RefSeq NM_007375.3:c.892G>A NP_031401.1:p.Gly298Ser
Ensemble ENST00000315091.7:c.832+60G>A
ENST00000240185.8:c.892G>A ENST00000240185.8:p.Gly298Ser
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 other germline MGS000082
(TMGS000165)
Kenjiro Kosaki
Kenjiro Kosaki
Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2019-02-28 no assertion criteria provided amyotrophic lateral sclerosis type 10 germline Detail
Pathogenic 2018-06-22 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-01-17 criteria provided, single submitter TARDBP-related frontotemporal dementia,amyotrophic lateral sclerosis type 10 germline Detail
Pathogenic 2023-01-17 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
0.240 AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a ... UNIPROT 18396105 Detail
<0.001 Central neuroblastoma In the current study, we analyzed protein turnover and subcellular distribution ... BeFree 24477737 Detail
<0.001 neuroblastoma In the current study, we analyzed protein turnover and subcellular distribution ... BeFree 24477737 Detail
0.007 amyotrophic lateral sclerosis Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein leve... BeFree 20558945 Detail
0.380 amyotrophic lateral sclerosis Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein leve... BeFree 20558945 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) AND Amyotrophic lateral sclerosis type 10 ClinVar Detail
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) AND not provided ClinVar Detail
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopat... DisGeNET Detail
In the current study, we analyzed protein turnover and subcellular distribution of wild-type TDP-43 ... DisGeNET Detail
In the current study, we analyzed protein turnover and subcellular distribution of wild-type TDP-43 ... DisGeNET Detail
Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in spo... DisGeNET Detail
Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in spo... 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
rs4884357 dbSNP
Genome
hg19
Position
chr1:11,082,358-11,082,358
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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