chr20:5118990:G>A Detail (hg38) (PCNA)

Information

Genome

Assembly Position
hg19 chr20:5,099,636-5,099,636 View the variant detail on this assembly version.
hg38 chr20:5,118,990-5,118,990

HGVS

Type Transcript Protein
RefSeq NM_182649.1:c.222-124C>T
NM_002592.2:c.222-124C>T
Ensemble ENST00000379143.10:c.222-124C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.349
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 176740 OMIM
HGNC 8729 HGNC
Ensembl ENSG00000132646 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62983121 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
0.003 meningioma Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
<0.001 Meningioma, benign, no ICD-O subtype Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
0.003 meningioma Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
0.003 meningioma Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
<0.001 Meningioma, benign, no ICD-O subtype Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
<0.001 Meningioma, benign, no ICD-O subtype Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
Annotation

Annotations

DescrptionSourceLinks
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs25406 dbSNP
Genome
hg38
Position
chr20:5,118,990-5,118,990
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs25406
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3486
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5842
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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