chr6:32629137:T>C Detail (hg19) (HLA-DQB1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:32,629,137-32,629,137 |
hg38 | chr6:32,661,360-32,661,360 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001243961.1:c.759A>G | NP_001230890.1:p.Gln253= |
NM_002123.4:c.759A>G | NP_002114.3:p.Gln253= | |
Ensemble | ENST00000374943.8:c.759A>G | ENST00000374943.8:p.Gln253= |
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 |
---|---|---|---|---|---|
<0.001 | Steroid-sensitive nephrotic syndrome | Four common single nucleotide polymorphisms (SNPs) in HLA-DQA1 and HLA-DQB1 (rs1... | BeFree | 25349203 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Four common single nucleotide polymorphisms (SNPs) in HLA-DQA1 and HLA-DQB1 (rs1129740, rs9273349, r... | 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
- rs1140343 dbSNP
- Genome
- hg19
- Position
- chr6:32,629,137-32,629,137
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser