chr5:83142323:GATGAGGAAACTAACTCTCAGTGGTGTTTA> Detail (hg38) (XRCC4)

Information

Genome

Assembly Position
hg19 chr5:82,438,142-82,438,171 
hg38 chr5:83,142,323-83,142,352

HGVS

Type Transcript Protein
RefSeq NM_022550.3:c.315+31120_315+31149delGATGAGGAAACTAACTCTCAGTGGTGTTTA
NM_001318012.1:c.315+31120_315+31149delGATGAGGAAACTAACTCTCAGTGGTGTTTA
NM_003401.4:c.315+31120_315+31149delGATGAGGAAACTAACTCTCAGTGGTGTTTA
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.246
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 194363 OMIM
HGNC 12831 HGNC
Ensembl ENSG00000152422 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv21725326 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 Non-small cell lung carcinoma The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... BeFree 21717429 Detail
<0.001 Non-small cell lung carcinoma The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... BeFree 21717429 Detail
<0.001 Non-small cell lung carcinoma The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... BeFree 21717429 Detail
Annotation

Annotations

DescrptionSourceLinks
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... DisGeNET Detail
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... DisGeNET Detail
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs28360071 dbSNP
Genome
hg38
Position
chr5:83,142,323-83,142,352
Variant Type
snv
Reference Allele
GATGAGGAAACTAACTCTCAGTGGTGTTTA
Alternative Allele
-
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))
rs28360071
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2464
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4129
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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