chr7:100621008:C>T Detail (hg38) (TFR2)

Information

Genome

Assembly Position
hg19 chr7:100,218,631-100,218,631 View the variant detail on this assembly version.
hg38 chr7:100,621,008-100,621,008

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.2255G>A NP_003218.2:p.Arg752His
Ensemble ENST00000223051.8:c.2255G>A ENST00000223051.8:p.Arg752His
ENST00000431692.5:c.*930G>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 Benign Likely benign
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 tgv351116368 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign criteria provided, single submitter not specified germline Detail
Benign 2024-01-31 criteria provided, single submitter Hereditary hemochromatosis germline Detail
Likely benign 2017-04-27 criteria provided, single submitter hemochromatosis type 3 germline Detail
Likely benign no assertion criteria provided not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Hereditary hemochromatosis We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene,... BeFree 25976471 Detail
0.125 Hereditary hemochromatosis We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene,... BeFree 25976471 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003227.4(TFR2):c.2255G>A (p.Arg752His) AND not specified ClinVar Detail
NM_003227.4(TFR2):c.2255G>A (p.Arg752His) AND Hereditary hemochromatosis ClinVar Detail
NM_003227.4(TFR2):c.2255G>A (p.Arg752His) AND Hemochromatosis type 3 ClinVar Detail
NM_003227.4(TFR2):c.2255G>A (p.Arg752His) AND not provided ClinVar Detail
We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene, rs2230267 in FTL ge... DisGeNET Detail
We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene, rs2230267 in FTL ge... 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
rs41295942 dbSNP
Genome
hg38
Position
chr7:100,621,008-100,621,008
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
3994
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)
63896
Allele Counts in All Race (ExAC)
1960
Heterozygous Counts in All Race (ExAC)
1900
Homozygous Counts in All Race (ExAC)
30
Allele Frequency in All Race (ExAC)
0.03067484662576687
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