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 |
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
Descrption | Source | Links |
---|---|---|
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