chr7:100628228:A>C Detail (hg38) (TFR2)

Information

Genome

Assembly Position
hg19 chr7:100,225,851-100,225,851 View the variant detail on this assembly version.
hg38 chr7:100,628,228-100,628,228

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.1469T>G NP_003218.2:p.Leu490Arg
Ensemble ENST00000223051.8:c.1469T>G ENST00000223051.8:p.Leu490Arg
ENST00000431692.5:c.*144T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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 tgv30318223 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
0.146 hemochromatosis Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japa... BeFree 15749661 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003227.4(TFR2):c.1469T>G (p.Leu490Arg) AND Hemochromatosis type 3 ClinVar Detail
NA DisGeNET Detail
Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with h... 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
rs80338886 dbSNP
Genome
hg38
Position
chr7:100,628,228-100,628,228
Variant Type
snv
Reference Allele
A
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs80338886
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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