chr9:97854446:GCCGCC> Detail (hg38) (FOXE1)

Information

Genome

Assembly Position
hg19 chr9:100,616,728-100,616,733 
hg38 chr9:97,854,446-97,854,451

HGVS

Type Transcript Protein
RefSeq NM_004473.3:c.532_537delGCCGCC NP_004464.2:p.Ala178_Ala179del
Ensemble ENST00000375123.5:c.532_537delGCCGCC ENST00000375123.5:p.Ala178_Ala179del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.574
ToMMo:0.987
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.135

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602617 OMIM
HGNC 3806 HGNC
Ensembl ENSG00000178919 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv36963511 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 differentiated thyroid gland carcinoma Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per... BeFree 25879635 Detail
0.001 differentiated thyroid gland carcinoma Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per... BeFree 25879635 Detail
Annotation

Annotations

DescrptionSourceLinks
Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95%... DisGeNET Detail
Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95%... 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
hg38
Position
chr9:97,854,446-97,854,451
Variant Type
snv
Reference Allele
GCCGCC
Alternative Allele
-
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1108
Mean of sample read depth (HGVD)
73.05
Standard deviation of sample read depth (HGVD)
50.43
Number of reference allele (HGVD)
725
Number of alternative allele (HGVD)
976
Allele Frequency (HGVD)
0.5737801293356849
Gene Symbol (HGVD)
FOXE1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9874
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15885
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16088
East Asian Chromosome Counts (ExAC)
222
East Asian Allele Counts (ExAC)
30
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
14
East Asian Allele Frequency (ExAC)
0.13513513513513514
Chromosome Counts in All Race (ExAC)
7154
Allele Counts in All Race (ExAC)
443
Heterozygous Counts in All Race (ExAC)
109
Homozygous Counts in All Race (ExAC)
164
Allele Frequency in All Race (ExAC)
0.06192339949678501
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