chr1:11082521:A>G Detail (hg19) (MASP2, TARDBP)

Information

Genome

Assembly Position
hg19 chr1:11,082,521-11,082,521
hg38 chr1:11,022,464-11,022,464 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000700088.1:c.1397-271T>C
Type Transcript Protein
RefSeq NM_007375.3:c.1055A>G NP_031401.1:p.Asn352Ser
Ensemble ENST00000315091.7:c.832+223A>G
ENST00000240185.8:c.1055A>G ENST00000240185.8:p.Asn352Ser
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-08-24 criteria provided, multiple submitters, no conflicts amyotrophic lateral sclerosis type 10 germline Detail
Pathogenic 2023-11-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-21 criteria provided, single submitter TARDBP-related frontotemporal dementia,amyotrophic lateral sclerosis type 10 germline Detail
Pathogenic 2024-01-21 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
0.001 Impaired cognition We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 sm... BeFree 18779421 Detail
<0.001 respiratory failure We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 sm... BeFree 18779421 Detail
<0.001 Accessory nipple The novel p.Gly376Asp TARDBP mutation is associated with rapid disease progressi... BeFree 23327806 Detail
0.006 Amyotrophic Lateral Sclerosis, Sporadic An N352S mutation was found in one case of FALS, but no TARDBP mutations were fo... BeFree 19411082 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) AND Amyotrophic lateral sclerosis type 10 ClinVar Detail
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) AND not provided ClinVar Detail
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) AND multiple conditions ClinVar Detail
We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 small kindreds with a ... DisGeNET Detail
We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 small kindreds with a ... DisGeNET Detail
The novel p.Gly376Asp TARDBP mutation is associated with rapid disease progression and may be associ... DisGeNET Detail
An N352S mutation was found in one case of FALS, but no TARDBP mutations were found in cases of SALS... 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
rs80356734 dbSNP
Genome
hg19
Position
chr1:11,082,521-11,082,521
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser