chr1:11082325:G>A Detail (hg19) (MASP2, TARDBP)

Information

Genome

Assembly Position
hg19 chr1:11,082,325-11,082,325
hg38 chr1:11,022,268-11,022,268 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000700088.1:c.1397-75C>T
Type Transcript Protein
RefSeq NM_007375.3:c.859G>A NP_031401.1:p.Gly287Ser
Ensemble ENST00000621790.4:c.859G>A ENST00000621790.4:p.Val287Ile
ENST00000240185.8:c.859G>A ENST00000240185.8:p.Gly287Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
Likely pathogenic 2022-08-29 criteria provided, multiple submitters, no conflicts amyotrophic lateral sclerosis type 10 germline unknown Detail
Likely pathogenic 2021-06-01 criteria provided, single submitter not provided germline Detail
Pathogenic 2016-08-31 criteria provided, single submitter motor neuron disease unknown Detail
Likely pathogenic 2023-12-11 criteria provided, single submitter amyotrophic lateral sclerosis type 10,TARDBP-related frontotemporal dementia germline Detail
Likely pathogenic 2023-12-11 criteria provided, single submitter amyotrophic lateral sclerosis type 10,TARDBP-related frontotemporal dementia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.380 amyotrophic lateral sclerosis 1.6% of patients carried multiple known/potential disease variants, including al... BeFree 23881933 Detail
0.240 AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) High frequency of TARDBP gene mutations in Italian patients with amyotrophic lat... UNIPROT 19224587 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) AND Amyotrophic lateral sclerosis type 10 ClinVar Detail
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) AND not provided ClinVar Detail
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) AND Motor neuron disease ClinVar Detail
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) AND multiple conditions ClinVar Detail
1.6% of patients carried multiple known/potential disease variants, including all identified carrier... DisGeNET Detail
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. 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
rs80356719 dbSNP
Genome
hg19
Position
chr1:11,082,325-11,082,325
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121408
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.236689509752241E-6
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