chr19:45352226:C>G Detail (hg38) (ERCC2)

Information

Genome

Assembly Position
hg19 chr19:45,855,484-45,855,484 View the variant detail on this assembly version.
hg38 chr19:45,352,226-45,352,226

HGVS

Type Transcript Protein
RefSeq NM_000400.3:c.2173G>C NP_000391.1:p.Ala725Pro
Ensemble ENST00000391944.8:c.2173G>C ENST00000391944.8:p.Ala725Pro
ENST00000391945.10:c.2173G>C ENST00000391945.10:p.Ala725Pro
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 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1997-01-01 no assertion criteria provided Trichothiodystrophy 1, photosensitive germline Detail
Pathogenic Likely pathogenic 2023-12-10 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2022-04-13 criteria provided, single submitter Xeroderma pigmentosum, group D,Trichothiodystrophy 1, photosensitive,cerebrooculofacioskeletal syndrome 2 unknown Detail
Likely pathogenic 2022-04-13 criteria provided, single submitter Xeroderma pigmentosum, group D,Trichothiodystrophy 1, photosensitive,cerebrooculofacioskeletal syndrome 2 unknown Detail
Likely pathogenic 2022-04-13 criteria provided, single submitter Xeroderma pigmentosum, group D,Trichothiodystrophy 1, photosensitive,cerebrooculofacioskeletal syndrome 2 unknown Detail
Pathogenic 2023-02-16 criteria provided, single submitter xeroderma pigmentosum germline Detail
Pathogenic 2023-06-22 criteria provided, single submitter Inborn genetic diseases germline Detail
Likely pathogenic 2023-06-14 criteria provided, single submitter cerebrooculofacioskeletal syndrome 2 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 photosensitive trichothiodystrophy NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) AND Trichothiodystrophy 1, photosensitive ClinVar Detail
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) AND not provided ClinVar Detail
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) AND multiple conditions ClinVar Detail
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) AND multiple conditions ClinVar Detail
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) AND multiple conditions ClinVar Detail
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) AND Xeroderma pigmentosum ClinVar Detail
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) AND Inborn genetic diseases ClinVar Detail
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) AND Cerebrooculofacioskeletal syndrome 2 ClinVar 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
rs121913018 dbSNP
Genome
hg38
Position
chr19:45,352,226-45,352,226
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8588
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)
119328
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.3521051220166265E-5
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