chr7:100633100:G>C Detail (hg38) (TFR2)

Information

Genome

Assembly Position
hg19 chr7:100,230,723-100,230,723 View the variant detail on this assembly version.
hg38 chr7:100,633,100-100,633,100

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.750C>G NP_003218.2:p.Tyr250Ter
Ensemble ENST00000223051.8:c.750C>G ENST00000223051.8:p.Tyr250Ter
ENST00000431692.5:c.750C>G ENST00000431692.5:p.Tyr250Ter
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 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 2000-05-01 no assertion criteria provided hemochromatosis type 3 unknown germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 porphyria cutanea tarda By contrast, the frequencies of the common H63D mutation did not differ, and the... BeFree 17298224 Detail
<0.001 HEMOCHROMATOSIS, TYPE 3 By contrast, the frequencies of the common H63D mutation did not differ, and the... BeFree 17298224 Detail
0.562 HEMOCHROMATOSIS, TYPE 3 By contrast, the frequencies of the common H63D mutation did not differ, and the... BeFree 17298224 Detail
0.562 HEMOCHROMATOSIS, TYPE 3 NA CLINVAR Detail
0.019 Iron Overload The pathogenetic role of TFR2 in hemochromatosis has been recently further demon... BeFree 12547237 Detail
0.125 Hereditary hemochromatosis 25, 14-15, 2000) identified a stop mutation (exon 6 nt 750 C --&gt; T, Y250X) on... BeFree 11358390 Detail
0.019 Iron Overload Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African Am... BeFree 11358388 Detail
0.019 Iron Overload Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overlo... BeFree 15020277 Detail
0.146 hemochromatosis A mutation of the transferrin receptor-2 gene (TFR2; exon 6, nt 750 C --&gt; G, ... BeFree 11358388 Detail
0.146 hemochromatosis Patients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygou... BeFree 11313241 Detail
0.146 hemochromatosis A rapid PCR-SSP assay for the hemochromatosis-associated Tyr250Stop mutation in ... BeFree 11551099 Detail
<0.001 Acute lymphocytic leukemia We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (... BeFree 15863206 Detail
0.009 Precursor Cell Lymphoblastic Leukemia Lymphoma We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (... BeFree 15863206 Detail
<0.001 Leukemia, Myelocytic, Acute We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (... BeFree 15863206 Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (... BeFree 15863206 Detail
0.001 Leukemia, Myelocytic, Acute We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (... BeFree 15863206 Detail
<0.001 Acute lymphocytic leukemia We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (... BeFree 15863206 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003227.4(TFR2):c.750C>G (p.Tyr250Ter) AND Hemochromatosis type 3 ClinVar Detail
By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies ... DisGeNET Detail
By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies ... DisGeNET Detail
By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies ... DisGeNET Detail
NA DisGeNET Detail
The pathogenetic role of TFR2 in hemochromatosis has been recently further demonstrated through the ... DisGeNET Detail
25, 14-15, 2000) identified a stop mutation (exon 6 nt 750 C --&gt; T, Y250X) on the transferrin rec... DisGeNET Detail
Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with... DisGeNET Detail
Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload. DisGeNET Detail
A mutation of the transferrin receptor-2 gene (TFR2; exon 6, nt 750 C --&gt; G, replaces TAC with st... DisGeNET Detail
Patients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygous nonsense mutation ... DisGeNET Detail
A rapid PCR-SSP assay for the hemochromatosis-associated Tyr250Stop mutation in the TFR2 gene. DisGeNET Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H... DisGeNET Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H... DisGeNET Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H... DisGeNET Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H... DisGeNET Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H... DisGeNET Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, 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
rs80338880 dbSNP
Genome
hg38
Position
chr7:100,633,100-100,633,100
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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