chr6:32661360:T>C Detail (hg38) (HLA-DQB1)

Information

Genome

Assembly Position
hg19 chr6:32,629,137-32,629,137 View the variant detail on this assembly version.
hg38 chr6:32,661,360-32,661,360

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 604305 OMIM
HGNC 4944 HGNC
Ensembl ENSG00000179344 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
<0.001 Steroid-sensitive nephrotic syndrome Four common single nucleotide polymorphisms (SNPs) in HLA-DQA1 and HLA-DQB1 (rs1... BeFree 25349203 Detail
Annotation

Annotations

DescrptionSourceLinks
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
hg38
Position
chr6:32,661,360-32,661,360
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser