chr6:157201140:G>A Detail (hg38) (ARID1B)

Information

Genome

Assembly Position
hg19 chr6:157,522,274-157,522,274 View the variant detail on this assembly version.
hg38 chr6:157,201,140-157,201,140

HGVS

Type Transcript Protein
RefSeq NM_020732.3:c.4795G>A NP_065783.3:p.Val1599Ile
NM_017519.2:c.4756G>A NP_059989.2:p.Val1586Ile
Ensemble ENST00000346085.10:c.4795G>A ENST00000346085.10:p.Val1599Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.002
ToMMo:0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.002

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 614556 OMIM
HGNC 18040 HGNC
Ensembl ENSG00000049618 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27618995 TogoVar
COSMIC COSM1075353 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-11-04 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001374828.1(ARID1B):c.4915G>A (p.Val1639Ile) AND not provided ClinVar 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
hg38
Position
chr6:157,201,140-157,201,140
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
242.69
Standard deviation of sample read depth (HGVD)
115.05
Number of reference allele (HGVD)
2414
Number of alternative allele (HGVD)
6
Allele Frequency (HGVD)
0.0024793388429752068
Gene Symbol (HGVD)
ARID1B
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))
rs567836947
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0014
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
23
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)
14
East Asian Heterozygous Counts (ExAC)
14
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0016177490177952392
Chromosome Counts in All Race (ExAC)
121318
Allele Counts in All Race (ExAC)
14
Heterozygous Counts in All Race (ExAC)
14
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1539919879984834E-4
Genome browser