chr7:100228550:TTG> Detail (hg19) (TFR2)

Information

Genome

Assembly Position
hg19 chr7:100,228,550-100,228,552
hg38 chr7:100,630,927-100,630,929 

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.1230_1232delCAA NP_003218.2:p.Asn412del
Ensemble ENST00000223051.8:c.1230_1232delCAA ENST00000223051.8:p.Asn412del
ENST00000431692.5:c.973_975delCAA ENST00000431692.5:p.Gln326del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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
COSMIC COSM6800600 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
-
Genome
hg19
Position
chr7:100,228,550-100,228,552
Variant Type
snv
Reference Allele
TTG
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121362
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.647962294622699E-5
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