chr7:100626866:C>G Detail (hg38) (TFR2, LOC113687175)

Information

Genome

Assembly Position
hg19 chr7:100,224,489-100,224,489 View the variant detail on this assembly version.
hg38 chr7:100,626,866-100,626,866

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.2033G>C NP_003218.2:p.Arg678Pro
Ensemble ENST00000223051.8:c.2033G>C ENST00000223051.8:p.Arg678Pro
ENST00000431692.5:c.*708G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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
Likely pathogenic 2021-07-12 criteria provided, single submitter Hereditary hemochromatosis germline Detail
Likely pathogenic 2023-04-10 criteria provided, single submitter hemochromatosis type 3 germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 Hereditary hemochromatosis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003227.4(TFR2):c.2033G>C (p.Arg678Pro) AND Hereditary hemochromatosis ClinVar Detail
NM_003227.4(TFR2):c.2033G>C (p.Arg678Pro) AND Hemochromatosis type 3 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
rs786204108 dbSNP
Genome
hg38
Position
chr7:100,626,866-100,626,866
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser