chr4:101829919:G>A Detail (hg38) (BANK1)

Information

Genome

Assembly Position
hg19 chr4:102,751,076-102,751,076 View the variant detail on this assembly version.
hg38 chr4:101,829,919-101,829,919

HGVS

Type Transcript Protein
RefSeq NM_017935.4:c.182G>A NP_060405.4:p.Arg61His
NM_001127507.2:c.71-25116G>A
NM_001083907.2:c.92G>A NP_001077376.2:p.Arg31His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.104
ToMMo:0.108
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.158

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 610292 OMIM
HGNC 18233 HGNC
Ensembl ENSG00000153064 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv18066404 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-09-15 no assertion criteria provided Variant of unknown significance germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.265 Lupus Erythematosus, Systemic To investigate 1 functional (rs17266594) and 2 potentially functional (rs1051648... BeFree 19180476 Detail
<0.001 Lupus Vulgaris The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene ex... BeFree 21900951 Detail
0.022 Lupus Erythematosus, Systemic This study implies that rs10516487 and rs17266594 polymorphisms might contribute... BeFree 21078628 Detail
0.265 Lupus Erythematosus, Systemic The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene ex... BeFree 21900951 Detail
0.265 Lupus Erythematosus, Systemic [The genetic contribution towards predicting early-onset disease in patients wit... GAD 20881011 Detail
0.004 systemic scleroderma To determine whether the functional BANK1 variants rs3733197 and rs10516487 are ... BeFree 19877059 Detail
<0.001 Lupus Erythematosus, Discoid The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene ex... BeFree 21900951 Detail
0.265 Lupus Erythematosus, Systemic [Functional variants in the B-cell gene BANK1 are associated with systemic lupus... GAD 18204447 Detail
0.257 systemic scleroderma To determine whether the functional BANK1 variants rs3733197 and rs10516487 are ... BeFree 19877059 Detail
0.143 systemic scleroderma To determine whether the functional BANK1 variants rs3733197 and rs10516487 are ... BeFree 19877059 Detail
0.023 Lupus Erythematosus, Systemic Using a list of 11 single nucleotide polymorphisms from the results of genome-wi... BeFree 25882064 Detail
0.265 Lupus Erythematosus, Systemic Functional variants in the B-cell gene BANK1 are associated with systemic lupus ... GWASCAT 18204447 Detail
<0.001 lupus erythematosus The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene ex... BeFree 21900951 Detail
0.002 Lupus Erythematosus, Systemic This study implies that rs10516487 and rs17266594 polymorphisms might contribute... BeFree 21078628 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_017935.5(BANK1):c.182G>A (p.Arg61His) AND Variant of unknown significance ClinVar Detail
To investigate 1 functional (rs17266594) and 2 potentially functional (rs10516487 and rs3733197) BAN... DisGeNET Detail
The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein... DisGeNET Detail
This study implies that rs10516487 and rs17266594 polymorphisms might contribute to individual susce... DisGeNET Detail
The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein... DisGeNET Detail
[The genetic contribution towards predicting early-onset disease in patients with SLE is quantified ... DisGeNET Detail
To determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with syst... DisGeNET Detail
The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein... DisGeNET Detail
[Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.] DisGeNET Detail
To determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with syst... DisGeNET Detail
To determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with syst... DisGeNET Detail
Using a list of 11 single nucleotide polymorphisms from the results of genome-wide association studi... DisGeNET Detail
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. DisGeNET Detail
The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein... DisGeNET Detail
This study implies that rs10516487 and rs17266594 polymorphisms might contribute to individual susce... 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
rs10516487 dbSNP
Genome
hg38
Position
chr4:101,829,919-101,829,919
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
115.38
Standard deviation of sample read depth (HGVD)
53.13
Number of reference allele (HGVD)
2169
Number of alternative allele (HGVD)
251
Allele Frequency (HGVD)
0.10371900826446281
Gene Symbol (HGVD)
BANK1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs10516487
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1085
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1818
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1369
East Asian Heterozygous Counts (ExAC)
1129
East Asian Homozygous Counts (ExAC)
120
East Asian Allele Frequency (ExAC)
0.15819274324012017
Chromosome Counts in All Race (ExAC)
121262
Allele Counts in All Race (ExAC)
30887
Heterozygous Counts in All Race (ExAC)
22568
Homozygous Counts in All Race (ExAC)
4159
Allele Frequency in All Race (ExAC)
0.2547129356269895
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