chr7:100228596:G>A Detail (hg19) (TFR2)

Information

Genome

Assembly Position
hg19 chr7:100,228,596-100,228,596
hg38 chr7:100,630,973-100,630,973 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.1186C>T NP_003218.2:p.Arg396Ter
Ensemble ENST00000223051.8:c.1186C>T ENST00000223051.8:p.Arg396Ter
ENST00000431692.5:c.929C>T ENST00000431692.5:p.Thr310Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 604720 OMIM
HGNC 11762 HGNC
Ensembl ENSG00000106327 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 2023-10-27 criteria provided, single submitter hemochromatosis type 3 germline unknown Detail
Pathogenic 2023-10-28 criteria provided, single submitter Hereditary hemochromatosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.019 Iron Overload Hemochromatosis and severe iron overload associated with compound heterozygosity... BeFree 16424658 Detail
0.146 hemochromatosis Hemochromatosis and severe iron overload associated with compound heterozygosity... BeFree 16424658 Detail
0.562 HEMOCHROMATOSIS, TYPE 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter) AND Hemochromatosis type 3 ClinVar Detail
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter) AND Hereditary hemochromatosis ClinVar Detail
Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and ... DisGeNET Detail
Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and ... 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
rs80338882 dbSNP
Genome
hg19
Position
chr7:100,228,596-100,228,596
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8382
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
116910
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.553588230262596E-6
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