chr1:11022556:A>G Detail (hg38) (MASP2, TARDBP)

Information

Genome

Assembly Position
hg19 chr1:11,082,613-11,082,613 View the variant detail on this assembly version.
hg38 chr1:11,022,556-11,022,556

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000700088.1:c.1397-363T>C
Type Transcript Protein
RefSeq NM_007375.3:c.1147A>G NP_031401.1:p.Ile383Val
Ensemble ENST00000240185.8:c.1147A>G ENST00000240185.8:p.Ile383Val
ENST00000315091.7:c.832+315A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2020-12-18 criteria provided, multiple submitters, no conflicts amyotrophic lateral sclerosis type 10 germline Detail
Likely pathogenic 2023-12-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-08-16 criteria provided, single submitter TARDBP-related frontotemporal dementia,amyotrophic lateral sclerosis type 10 germline Detail
Pathogenic 2023-08-16 criteria provided, single submitter TARDBP-related frontotemporal dementia,amyotrophic lateral sclerosis type 10 germline Detail
Likely pathogenic 2020-04-08 criteria provided, single submitter 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.1147A>G (p.Ile383Val) AND Amyotrophic lateral sclerosis type 10 ClinVar Detail
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) AND not provided ClinVar Detail
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) AND multiple conditions ClinVar Detail
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) AND See cases 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
rs80356740 dbSNP
Genome
hg38
Position
chr1:11,022,556-11,022,556
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
115618
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.649172274213358E-6
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