chr1:11082501:C>A Detail (hg19) (MASP2, TARDBP)

Information

Genome

Assembly Position
hg19 chr1:11,082,501-11,082,501
hg38 chr1:11,022,444-11,022,444 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000700088.1:c.1397-251G>T
Type Transcript Protein
RefSeq NM_007375.3:c.1035C>A NP_031401.1:p.Asn345Lys
Ensemble ENST00000315091.7:c.832+203C>A
ENST00000616545.4:c.841+194C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 2022-10-07 criteria provided, single submitter TARDBP-related frontotemporal dementia,amyotrophic lateral sclerosis type 10 germline Detail
Pathogenic 2022-10-07 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
0.038 Neurodegenerative Disorders Three different heterozygous missense mutations in exon 6 of TARDBP (p.M337V, p.... BeFree 18802454 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys) AND multiple conditions ClinVar Detail
Three different heterozygous missense mutations in exon 6 of TARDBP (p.M337V, p.N345K, and p.I383V) ... 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
rs80356732 dbSNP
Genome
hg19
Position
chr1:11,082,501-11,082,501
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser