chr4:102839287:G>A Detail (hg19) (BANK1)

Information

Genome

Assembly Position
hg19 chr4:102,839,287-102,839,287
hg38 chr4:101,918,130-101,918,130 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_017935.4:c.1147G>A NP_060405.4:p.Ala383Thr
NM_001127507.2:c.748G>A NP_001120979.2:p.Ala250Thr
NM_001083907.2:c.1057G>A NP_001077376.2:p.Ala353Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.157
ToMMo:0.140
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.212

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv18068287 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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
0.004 systemic scleroderma To determine whether the functional BANK1 variants rs3733197 and rs10516487 are ... BeFree 19877059 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
Annotation

Annotations

DescrptionSourceLinks
To investigate 1 functional (rs17266594) and 2 potentially functional (rs10516487 and rs3733197) BAN... 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
To determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with syst... 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
-
Genome
hg19
Position
chr4:102,839,287-102,839,287
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
85.16
Standard deviation of sample read depth (HGVD)
39.63
Number of reference allele (HGVD)
2041
Number of alternative allele (HGVD)
379
Allele Frequency (HGVD)
0.15661157024793387
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))
rs3733197
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1402
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2350
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8588
East Asian Allele Counts (ExAC)
1819
East Asian Heterozygous Counts (ExAC)
1395
East Asian Homozygous Counts (ExAC)
212
East Asian Allele Frequency (ExAC)
0.21180717279925476
Chromosome Counts in All Race (ExAC)
120694
Allele Counts in All Race (ExAC)
36646
Heterozygous Counts in All Race (ExAC)
24580
Homozygous Counts in All Race (ExAC)
6033
Allele Frequency in All Race (ExAC)
0.30362735512950106
Genome browser