chr22:17743998:T>C Detail (hg38) (BID)

Information

Genome

Assembly Position
hg19 chr22:18,226,764-18,226,764 View the variant detail on this assembly version.
hg38 chr22:17,743,998-17,743,998

HGVS

Type Transcript Protein
RefSeq NM_197966.2:c.166A>G NP_932070.1:p.Ser56Gly
NM_001244570.1:c.-65-4510A>G
NM_197967.2:c.-261A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.101
ToMMo:0.113
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.087

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601997 OMIM
HGNC 1050 HGNC
Ensembl ENSG00000015475 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65326929 TogoVar
COSMIC COSM3681365 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Invasive breast carcinoma In conclusion, our data provide persuasive evidence against an overall associati... BeFree 19423537 Detail
0.001 breast carcinoma Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361... BeFree 19423537 Detail
0.006 Malignant neoplasm of breast Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361... BeFree 19423537 Detail
Annotation

Annotations

DescrptionSourceLinks
In conclusion, our data provide persuasive evidence against an overall association between invasive ... DisGeNET Detail
Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs130106... DisGeNET Detail
Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs130106... 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
hg38
Position
chr22:17,743,998-17,743,998
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1109
Mean of sample read depth (HGVD)
29.04
Standard deviation of sample read depth (HGVD)
19.29
Number of reference allele (HGVD)
1995
Number of alternative allele (HGVD)
223
Allele Frequency (HGVD)
0.10054102795311091
Gene Symbol (HGVD)
BID
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))
rs8190315
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1133
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1899
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8622
East Asian Allele Counts (ExAC)
754
East Asian Heterozygous Counts (ExAC)
694
East Asian Homozygous Counts (ExAC)
30
East Asian Allele Frequency (ExAC)
0.08745070749246114
Chromosome Counts in All Race (ExAC)
120868
Allele Counts in All Race (ExAC)
3109
Heterozygous Counts in All Race (ExAC)
2971
Homozygous Counts in All Race (ExAC)
69
Allele Frequency in All Race (ExAC)
0.025722275540258795
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