chr6:29942870:G>C Detail (hg38) (HLA-A)

Information

Genome

Assembly Position
hg19 chr6:29,910,647-29,910,647 View the variant detail on this assembly version.
hg38 chr6:29,942,870-29,942,870

HGVS

Type Transcript Protein
RefSeq NM_002116.7:c.187G>C NP_002107.3:p.Asp63His
Ensemble ENST00000376802.2:c.187G>C ENST00000376802.2:p.Asp63His
ENST00000376806.9:c.187G>C ENST00000376806.9:p.Asp63His
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 142800 OMIM
HGNC 4931 HGNC
Ensembl ENSG00000206503 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
0.360 hemochromatosis Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazi... BeFree 11887210 Detail
0.031 hemochromatosis Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazi... BeFree 11887210 Detail
Annotation

Annotations

DescrptionSourceLinks
Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with h... DisGeNET Detail
Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with h... 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
rs199474387 dbSNP
Genome
hg38
Position
chr6:29,942,870-29,942,870
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser