chr7:100632099:G>A Detail (hg38) (TFR2)

Information

Genome

Assembly Position
hg19 chr7:100,229,722-100,229,722 View the variant detail on this assembly version.
hg38 chr7:100,632,099-100,632,099

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.949C>T NP_003218.2:p.Gln317Ter
Ensemble ENST00000223051.8:c.949C>T ENST00000223051.8:p.Gln317Ter
ENST00000431692.5:c.849+902C>T
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 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 HEMOCHROMATOSIS, TYPE 3 NA CLINVAR Detail
0.125 Hereditary hemochromatosis A 21-year-old brother with a milder phenotype resembling classic adult-onset her... BeFree 15685557 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003227.4(TFR2):c.949C>T (p.Gln317Ter) AND Hemochromatosis type 3 ClinVar Detail
NA DisGeNET Detail
A 21-year-old brother with a milder phenotype resembling classic adult-onset hereditary hemochromato... 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
rs80338881 dbSNP
Genome
hg38
Position
chr7:100,632,099-100,632,099
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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