chr1:11022290:G>T Detail (hg38) (MASP2, TARDBP)

Information

Genome

Assembly Position
hg19 chr1:11,082,347-11,082,347 View the variant detail on this assembly version.
hg38 chr1:11,022,290-11,022,290

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000700088.1:c.1397-97C>A
Type Transcript Protein
RefSeq NM_007375.3:c.881G>T NP_031401.1:p.Gly294Val
Ensemble ENST00000240185.8:c.881G>T ENST00000240185.8:p.Gly294Val
ENST00000315091.7:c.832+49G>T
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
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 2021-08-23 criteria provided, single submitter amyotrophic lateral sclerosis type 10 germline unknown Detail
Pathogenic 2024-01-19 criteria provided, single submitter amyotrophic lateral sclerosis type 10,TARDBP-related frontotemporal dementia germline Detail
Pathogenic 2024-01-19 criteria provided, single submitter amyotrophic lateral sclerosis type 10,TARDBP-related frontotemporal dementia germline Detail
Pathogenic 2021-08-26 criteria provided, single submitter not provided unknown 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) Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral scler... UNIPROT 19695877 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) AND Amyotrophic lateral sclerosis type 10 ClinVar Detail
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) AND not provided ClinVar Detail
NA DisGeNET Detail
Genetic variants in the promoter of TARDBP in sporadic 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
rs80356721 dbSNP
Genome
hg38
Position
chr1:11,022,290-11,022,290
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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)
121406
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)
8.236825198095647E-6
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