chr1:11022268:G>C Detail (hg38) (MASP2, TARDBP)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000700088.1:c.1397-75C>G
Type Transcript Protein
RefSeq NM_007375.3:c.859G>C NP_031401.1:p.Gly287Arg
Ensemble ENST00000240185.8:c.859G>C ENST00000240185.8:p.Gly287Arg
ENST00000315091.7:c.832+27G>C
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
0.380 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
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
hg38
Position
chr1:11,022,268-11,022,268
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser