chr7:100225386:G> Detail (hg19) (TFR2)

Information

Genome

Assembly Position
hg19 chr7:100,225,386-100,225,386
hg38 chr7:100,627,763-100,627,763 

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.1663delC NP_003218.2:p.Ser556AlafsTer6
Ensemble ENST00000223051.8:c.1663delC ENST00000223051.8:p.Ser556AlafsTer6
ENST00000431692.5:c.*338delC
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
not provided no assertion provided hemochromatosis type 3 unknown 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.1665del (p.Ser556fs) 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
rs80338887 dbSNP
Genome
hg19
Position
chr7:100,225,386-100,225,386
Variant Type
snv
Reference Allele
G
Alternative Allele
-
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