chr1:11082616:G>C Detail (hg19) (MASP2, TARDBP)

Information

Genome

Assembly Position
hg19 chr1:11,082,616-11,082,616
hg38 chr1:11,022,559-11,022,559 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000700088.1:c.1397-366C>G
Type Transcript Protein
RefSeq NM_007375.3:c.1150G>C NP_031401.1:p.Gly384Arg
Ensemble ENST00000621790.4:c.859+291G>C
ENST00000240185.8:c.1150G>C ENST00000240185.8:p.Gly384Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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
not provided no assertion provided amyotrophic lateral sclerosis type 10 germline Detail
Uncertain significance 2018-05-15 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2023-05-27 criteria provided, single submitter TARDBP-related frontotemporal dementia,amyotrophic lateral sclerosis type 10 germline Detail
Likely pathogenic 2023-05-27 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
Annotation

Annotations

DescrptionSourceLinks
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg) AND Amyotrophic lateral sclerosis type 10 ClinVar Detail
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg) AND not provided ClinVar Detail
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg) AND multiple conditions ClinVar Detail
NA 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
rs797044594 dbSNP
Genome
hg19
Position
chr1:11,082,616-11,082,616
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser