chr6:26091269:G>C Detail (hg19) (HFE)

Information

Genome

Assembly Position
hg19 chr6:26,091,269-26,091,269
hg38 chr6:26,091,041-26,091,041 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_139004.2:c.277G>C NP_620573.1:p.Gly93Arg
NM_139003.2:c.277G>C NP_620572.1:p.Gly93Arg
NM_139007.2:c.77-273G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 613609 OMIM
HGNC 4886 HGNC
Ensembl ENSG00000010704 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
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-06-01 no assertion criteria provided hemochromatosis type 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 hemochromatosis Two novel missense mutations of the HFE gene (I105T and G93R) and identification... BeFree 10575540 Detail
0.200 HEMOCHROMATOSIS, TYPE 1 Two novel missense mutations of the HFE gene (I105T and G93R) and identification... UNIPROT 10575540 Detail
0.205 Hereditary hemochromatosis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000410.4(HFE):c.277G>C (p.Gly93Arg) AND Hemochromatosis type 1 ClinVar Detail
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutatio... DisGeNET Detail
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutatio... DisGeNET Detail
NA 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
rs28934597 dbSNP
Genome
hg19
Position
chr6:26,091,269-26,091,269
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser