chr7:100629279:C>T Detail (hg38) (TFR2)

Information

Genome

Assembly Position
hg19 chr7:100,226,902-100,226,902 View the variant detail on this assembly version.
hg38 chr7:100,629,279-100,629,279

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.1364G>A NP_003218.2:p.Arg455Gln
Ensemble ENST00000223051.8:c.1364G>A ENST00000223051.8:p.Arg455Gln
ENST00000431692.5:c.*39G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv30318294 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2002-08-01 no assertion criteria provided Hemochromatosis, type 1, modifier of germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter hemochromatosis type 3 germline unknown Detail
Likely benign 2019-04-01 criteria provided, single submitter not provided germline Detail
Likely benign 2024-01-31 criteria provided, single submitter Hereditary hemochromatosis germline Detail
Likely benign 2020-10-09 criteria provided, single submitter TFR2-related disorder 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
0.125 Hereditary hemochromatosis NA CLINVAR 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.1364G>A (p.Arg455Gln) AND Hemochromatosis, type 1, modifier of ClinVar Detail
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) AND Hemochromatosis type 3 ClinVar Detail
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) AND not provided ClinVar Detail
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) AND Hereditary hemochromatosis ClinVar Detail
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) AND TFR2-related disorder ClinVar Detail
Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and ... DisGeNET Detail
NA 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
rs41303501 dbSNP
Genome
hg38
Position
chr7:100,629,279-100,629,279
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs41303501
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8624
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)
121176
Allele Counts in All Race (ExAC)
247
Heterozygous Counts in All Race (ExAC)
247
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0020383574305142932
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