chr20:5100328:G>T Detail (hg19) (PCNA)

Information

Genome

Assembly Position
hg19 chr20:5,100,328-5,100,328
hg38 chr20:5,119,682-5,119,682 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_182649.1:c.117C>A NP_872590.1:p.Ser39Arg
NM_002592.2:c.117C>A NP_002583.1:p.Ser39Arg
Ensemble ENST00000379143.10:c.117C>A ENST00000379143.10:p.Ser39Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 Malignant neoplasm of breast rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs... BeFree 18669164 Detail
0.002 breast carcinoma rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs... BeFree 18669164 Detail
Annotation

Annotations

DescrptionSourceLinks
rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1... DisGeNET Detail
rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1... 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
-
dbSNP
rs1050525 dbSNP
Genome
hg19
Position
chr20:5,100,328-5,100,328
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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