chr7:100225022:CTGGGCCACGGC> Detail (hg19) (TFR2)

Information

Genome

Assembly Position
hg19 chr7:100,225,022-100,225,033
hg38 chr7:100,627,399-100,627,410 

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.1849_1860delGCCGTGGCCCAG NP_003218.2:p.Ala621_Gln624del
Ensemble ENST00000223051.8:c.1849_1860delGCCGTGGCCCAG ENST00000223051.8:p.Ala621_Gln624del
ENST00000431692.5:c.*535_*524delGCCGTGGCCCAG
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
Review star [No Data.]
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 tgv30318024 TogoVar
COSMIC COSM1622067 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 HEMOCHROMATOSIS, TYPE 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs80338888 dbSNP
Genome
hg19
Position
chr7:100,225,022-100,225,033
Variant Type
snv
Reference Allele
CTGGGCCACGGC
Alternative Allele
-
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))
rs80338888
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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