chr7:100633515:A>T Detail (hg38) (TFR2)

Information

Genome

Assembly Position
hg19 chr7:100,231,138-100,231,138 View the variant detail on this assembly version.
hg38 chr7:100,633,515-100,633,515

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.515T>A NP_003218.2:p.Met172Lys
Ensemble ENST00000223051.8:c.515T>A ENST00000223051.8:p.Met172Lys
ENST00000431692.5:c.515T>A ENST00000431692.5:p.Met172Lys
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 2001-05-01 no assertion criteria provided hemochromatosis type 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 HEMOCHROMATOSIS, TYPE 3 NA CLINVAR Detail
0.019 Iron Overload Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 he... BeFree 16923517 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003227.4(TFR2):c.515T>A (p.Met172Lys) AND Hemochromatosis type 3 ClinVar Detail
NA DisGeNET Detail
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromat... 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
rs80338879 dbSNP
Genome
hg38
Position
chr7:100,633,515-100,633,515
Variant Type
snv
Reference Allele
A
Alternative Allele
T
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8294
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
111388
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)
8.977627751642906E-6
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