chr7:128954671:C>T Detail (hg38) (TNPO3)

Information

Genome

Assembly Position
hg19 chr7:128,594,725-128,594,725 View the variant detail on this assembly version.
hg38 chr7:128,954,671-128,954,671

HGVS

Type Transcript Protein
RefSeq NM_012470.3:c.*746G>A
Ensemble ENST00000265388.10:c.*746G>A
ENST00000627585.2:c.*746G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.558
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 610032 OMIM
HGNC 17103 HGNC
Ensembl ENSG00000064419 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30950270 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
0.235 Lupus Erythematosus, Systemic The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T), which was reporte... BeFree 21239750 Detail
0.235 Lupus Erythematosus, Systemic Two genetic variants of the IRF5 gene (rs2004640 in exon 1 and rs2280714 in the ... BeFree 17133578 Detail
<0.001 systemic scleroderma All 3 SNPs were significantly associated with SSc, with the rs2280714 A allele h... BeFree 19479858 Detail
Annotation

Annotations

DescrptionSourceLinks
The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T), which was reported as conferring an i... DisGeNET Detail
Two genetic variants of the IRF5 gene (rs2004640 in exon 1 and rs2280714 in the 3'-untranslated regi... DisGeNET Detail
All 3 SNPs were significantly associated with SSc, with the rs2280714 A allele having the strongest ... 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
rs2280714 dbSNP
Genome
hg38
Position
chr7:128,954,671-128,954,671
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs2280714
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.558
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9351
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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