chr19:45856060:G>A Detail (hg19) (ERCC2)

Information

Genome

Assembly Position
hg19 chr19:45,856,060-45,856,060
hg38 chr19:45,352,802-45,352,802 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000400.3:c.1846C>T NP_000391.1:p.Arg616Trp
Ensemble ENST00000391944.8:c.1846C>T ENST00000391944.8:p.Arg616Trp
ENST00000391945.10:c.1846C>T ENST00000391945.10:p.Arg616Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 tgv62283369 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2001-08-01 no assertion criteria provided Xeroderma pigmentosum, group D germline Detail
Pathogenic 2023-10-16 criteria provided, single submitter cerebrooculofacioskeletal syndrome 2 germline unknown Detail
Pathogenic Likely pathogenic 2024-01-24 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-11-08 criteria provided, single submitter xeroderma pigmentosum germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.565 Xeroderma Pigmentosum, Complementation Group D NA CLINVAR Detail
0.360 cerebrooculofacioskeletal syndrome 2 NA CLINVAR Detail
0.241 cerebrooculofacioskeletal syndrome 1 Here we report the first involvement of the XPD gene in a new case of UV-sensiti... BeFree 11443545 Detail
0.241 cerebrooculofacioskeletal syndrome 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) AND Xeroderma pigmentosum, group D ClinVar Detail
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) AND Cerebrooculofacioskeletal syndrome 2 ClinVar Detail
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) AND not provided ClinVar Detail
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) AND Xeroderma pigmentosum ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, wi... DisGeNET Detail
NA 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
rs121913024 dbSNP
Genome
hg19
Position
chr19:45,856,060-45,856,060
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))
rs121913024
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8622
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120726
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.969931911932806E-5
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