chr19:45867803:G>C Detail (hg19) (ERCC2)

Information

Genome

Assembly Position
hg19 chr19:45,867,803-45,867,803
hg38 chr19:45,364,545-45,364,545 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000400.3:c.597C>G NP_000391.1:p.Ile199Met
NM_001130867.1:c.525C>G NP_001124339.1:p.Ile175Met
Ensemble ENST00000391944.8:c.597C>G ENST00000391944.8:p.Ile199Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 Leukoplakia We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... BeFree 21741876 Detail
0.006 Leukoplakia We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... BeFree 21741876 Detail
Annotation

Annotations

DescrptionSourceLinks
We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... DisGeNET Detail
We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... 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
rs1799791 dbSNP
Genome
hg19
Position
chr19:45,867,803-45,867,803
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser