chr6:32665055:A>G Detail (hg38) (HLA-DQB1)

Information

Genome

Assembly Position
hg19 chr6:32,632,832-32,632,832 View the variant detail on this assembly version.
hg38 chr6:32,665,055-32,665,055

HGVS

Type Transcript Protein
RefSeq NM_001243961.1:c.122T>C NP_001230890.1:p.Phe41Ser
NM_002123.4:c.122T>C NP_002114.3:p.Phe41Ser
Ensemble ENST00000374943.8:c.122T>C ENST00000374943.8:p.Phe41Ser
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
0.008 leprosy NA GAD Detail
0.242 Drug-Induced Liver Injury Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by ... GWASCAT 21570397 Detail
0.242 Drug-Induced Liver Injury [Class I and II HLA genotypes affect susceptibility to AC-DILI, indicating the i... GAD 21570397 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I... DisGeNET Detail
[Class I and II HLA genotypes affect susceptibility to AC-DILI, indicating the importance of the ada... 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
rs9274407 dbSNP
Genome
hg38
Position
chr6:32,665,055-32,665,055
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser