chr13:103498375:T>C Detail (hg19) (ERCC5, BIVM-ERCC5)

Information

Genome

Assembly Position
hg19 chr13:103,498,375-103,498,375
hg38 chr13:102,846,025-102,846,025 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000639435.1:c.1451-6093T>C
ENST00000639132.1:c.764-6093T>C
Type Transcript Protein
RefSeq
Ensemble ENST00000652613.1:c.-739T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.118
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC 43690 HGNC
Ensembl ENSG00000270181 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv49705966 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 133530 OMIM
HGNC 3437 HGNC
Ensembl ENSG00000134899 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv49705966 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-12 criteria provided, single submitter Xeroderma pigmentosum, group G germline Detail
Benign 2018-11-11 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Malignant neoplasm of prostate In conclusion, we found that polymorphisms in XPG rs2296147 and CSB rs2228526 we... BeFree 24615090 Detail
0.002 prostate carcinoma In conclusion, we found that polymorphisms in XPG rs2296147 and CSB rs2228526 we... BeFree 24615090 Detail
<0.001 prostate carcinoma In conclusion, we found that polymorphisms in XPG rs2296147 and CSB rs2228526 we... BeFree 24615090 Detail
<0.001 prostate carcinoma Our study indicates that XPG rs2296147 and CSB rs2228526 polymorphisms are signi... BeFree 24289586 Detail
0.004 Malignant neoplasm of prostate In conclusion, we found that polymorphisms in XPG rs2296147 and CSB rs2228526 we... BeFree 24615090 Detail
0.004 Malignant neoplasm of prostate Our study indicates that XPG rs2296147 and CSB rs2228526 polymorphisms are signi... BeFree 24289586 Detail
0.003 Malignant neoplasm of prostate Our study indicates that XPG rs2296147 and CSB rs2228526 polymorphisms are signi... BeFree 24289586 Detail
0.002 prostate carcinoma Our study indicates that XPG rs2296147 and CSB rs2228526 polymorphisms are signi... BeFree 24289586 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000123.3(ERCC5):c.-242T>C AND Xeroderma pigmentosum, group G ClinVar Detail
NM_000123.3(ERCC5):c.-242T>C AND not provided ClinVar Detail
In conclusion, we found that polymorphisms in XPG rs2296147 and CSB rs2228526 were significantly ass... DisGeNET Detail
In conclusion, we found that polymorphisms in XPG rs2296147 and CSB rs2228526 were significantly ass... DisGeNET Detail
In conclusion, we found that polymorphisms in XPG rs2296147 and CSB rs2228526 were significantly ass... DisGeNET Detail
Our study indicates that XPG rs2296147 and CSB rs2228526 polymorphisms are significantly associated ... DisGeNET Detail
In conclusion, we found that polymorphisms in XPG rs2296147 and CSB rs2228526 were significantly ass... DisGeNET Detail
Our study indicates that XPG rs2296147 and CSB rs2228526 polymorphisms are significantly associated ... DisGeNET Detail
Our study indicates that XPG rs2296147 and CSB rs2228526 polymorphisms are significantly associated ... DisGeNET Detail
Our study indicates that XPG rs2296147 and CSB rs2228526 polymorphisms are significantly associated ... 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
rs2296147 dbSNP
Genome
hg19
Position
chr13:103,498,375-103,498,375
Variant Type
snv
Reference Allele
T
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))
rs2296147
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1184
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1984
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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