chr1:11022492:G>T Detail (hg38) (MASP2, TARDBP)

Information

Genome

Assembly Position
hg19 chr1:11,082,549-11,082,549 View the variant detail on this assembly version.
hg38 chr1:11,022,492-11,022,492

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000700088.1:c.1397-299C>A
Type Transcript Protein
RefSeq NM_007375.3:c.1083G>T NP_031401.1:p.Arg361Ser
Ensemble ENST00000240185.8:c.1083G>T ENST00000240185.8:p.Arg361Ser
ENST00000315091.7:c.832+251G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral s... UNIPROT 18372902 Detail
Annotation

Annotations

DescrptionSourceLinks
TARDBP mutations in individuals with sporadic and familial 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
rs80356735 dbSNP
Genome
hg38
Position
chr1:11,022,492-11,022,492
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser