chr19:45359191:A>G Detail (hg38) (ERCC2)

Information

Genome

Assembly Position
hg19 chr19:45,862,449-45,862,449 View the variant detail on this assembly version.
hg38 chr19:45,359,191-45,359,191

HGVS

Type Transcript Protein
RefSeq NM_000400.3:c.1238-1492T>C
NM_001130867.1:c.1166-279T>C
Ensemble ENST00000391944.8:c.1238-1492T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.834
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 126340 OMIM
HGNC 3434 HGNC
Ensembl ENSG00000104884 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62283964 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-11 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.084 Malignant neoplasm of breast Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined ... BeFree 21751184 Detail
0.008 breast carcinoma Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined ... BeFree 21751184 Detail
0.006 Malignant neoplasm of breast Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined ... BeFree 21751184 Detail
<0.001 breast carcinoma Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined ... BeFree 21751184 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000400.4(ERCC2):c.1238-1492T>C AND not provided ClinVar Detail
Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T all... DisGeNET Detail
Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T all... DisGeNET Detail
Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T all... DisGeNET Detail
Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T all... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs50872 dbSNP
Genome
hg38
Position
chr19:45,359,191-45,359,191
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs50872
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.834
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13977
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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