chr16:13921224:G>C Detail (hg38) (ERCC4)

Information

Genome

Assembly Position
hg19 chr16:14,015,081-14,015,081 View the variant detail on this assembly version.
hg38 chr16:13,921,224-13,921,224

HGVS

Type Transcript Protein
RefSeq NM_005236.2:c.208-807G>C
Ensemble ENST00000311895.8:c.208-807G>C
ENST00000575156.5:c.208-807G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.250
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 133520 OMIM
HGNC 3436 HGNC
Ensembl ENSG00000175595 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv54822579 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
<0.001 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

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs744154 dbSNP
Genome
hg38
Position
chr16:13,921,224-13,921,224
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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))
rs744154
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.25
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4190
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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