chr19:45357295:A>G Detail (hg38) (ERCC2)

Information

Genome

Assembly Position
hg19 chr19:45,860,553-45,860,553 View the variant detail on this assembly version.
hg38 chr19:45,357,295-45,357,295

HGVS

Type Transcript Protein
RefSeq NM_000400.3:c.1454T>C NP_000391.1:p.Leu485Pro
Ensemble ENST00000391944.8:c.1454T>C ENST00000391944.8:p.Leu485Pro
ENST00000391945.10:c.1454T>C ENST00000391945.10:p.Leu485Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 2001-10-15 no assertion criteria provided Xeroderma pigmentosum, group D germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.565 Xeroderma Pigmentosum, Complementation Group D NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro) AND Xeroderma pigmentosum, group D 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
rs121913025 dbSNP
Genome
hg38
Position
chr19:45,357,295-45,357,295
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser