chr19:45357368:G>C Detail (hg38) (ERCC2)

Information

Genome

Assembly Position
hg19 chr19:45,860,626-45,860,626 View the variant detail on this assembly version.
hg38 chr19:45,357,368-45,357,368

HGVS

Type Transcript Protein
RefSeq NM_000400.3:c.1381C>G NP_000391.1:p.Leu461Val
Ensemble ENST00000391944.8:c.1381C>G ENST00000391944.8:p.Leu461Val
ENST00000391945.10:c.1381C>G ENST00000391945.10:p.Leu461Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv405872660 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2019-05-28 criteria provided, multiple submitters, no conflicts Xeroderma pigmentosum, group D germline unknown Detail
Likely benign 2023-01-04 criteria provided, single submitter not specified germline Detail
no classifications from unflagged records 2023-10-18 no classifications from unflagged records Trichothiodystrophy 1, photosensitive germline Detail
Conflicting interpretations of pathogenicity 2024-03-01 criteria provided, conflicting interpretations not provided germline Detail
Uncertain significance 2021-10-11 criteria provided, single submitter xeroderma pigmentosum germline Detail
Likely benign 2022-03-15 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2023-01-04 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
0.565 Xeroderma Pigmentosum, Complementation Group D In cell line GM436 a C--&gt;G transversion was found at nucleotide position 1411... BeFree 7849702 Detail
0.440 photosensitive trichothiodystrophy NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) AND Xeroderma pigmentosum, group D ClinVar Detail
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) AND not specified ClinVar Detail
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) AND Trichothiodystrophy 1, photosensitive ClinVar Detail
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) AND not provided ClinVar Detail
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) AND Xeroderma pigmentosum ClinVar Detail
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) AND Inborn genetic diseases ClinVar Detail
NM_000400.4(ERCC2):c.[1381C>G;2150C>G] AND Xeroderma pigmentosum ClinVar Detail
NA DisGeNET Detail
In cell line GM436 a C--&gt;G transversion was found at nucleotide position 1411 in the XPD (ERCC2) ... 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
rs121913016 dbSNP
Genome
hg38
Position
chr19:45,357,368-45,357,368
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1568718186024989E-4
Chromosome Counts in All Race (ExAC)
120472
Allele Counts in All Race (ExAC)
162
Heterozygous Counts in All Race (ExAC)
158
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.0013447108041702636
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