chr7:100225917:C>T Detail (hg19) (TFR2)

Information

Genome

Assembly Position
hg19 chr7:100,225,917-100,225,917
hg38 chr7:100,628,294-100,628,294 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.1403G>A NP_003218.2:p.Arg468His
Ensemble ENST00000223051.8:c.1403G>A ENST00000223051.8:p.Arg468His
ENST00000431692.5:c.*78G>A
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 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 tgv30318238 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided hemochromatosis type 3 unknown Detail
Likely benign 2024-01-31 criteria provided, single submitter Hereditary hemochromatosis germline Detail
Uncertain significance 2015-07-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 HEMOCHROMATOSIS, TYPE 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003227.4(TFR2):c.1403G>A (p.Arg468His) AND Hemochromatosis type 3 ClinVar Detail
NM_003227.4(TFR2):c.1403G>A (p.Arg468His) AND Hereditary hemochromatosis ClinVar Detail
NM_003227.4(TFR2):c.1403G>A (p.Arg468His) AND not provided ClinVar 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
rs80338885 dbSNP
Genome
hg19
Position
chr7:100,225,917-100,225,917
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8604
East Asian Allele Counts (ExAC)
8
East Asian Heterozygous Counts (ExAC)
8
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
9.298000929800093E-4
Chromosome Counts in All Race (ExAC)
120290
Allele Counts in All Race (ExAC)
87
Heterozygous Counts in All Race (ExAC)
87
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.232521406600714E-4
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