chr11:613208:T>C Detail (hg38) (IRF7)

Information

Genome

Assembly Position
hg19 chr11:613,208-613,208 View the variant detail on this assembly version.
hg38 chr11:613,208-613,208

HGVS

Type Transcript Protein
RefSeq NM_004031.2:c.1274A>G NP_004022.2:p.Gln425Arg
Ensemble ENST00000330243.9:c.1274A>G ENST00000330243.9:p.Gln425Arg
ENST00000348655.11:c.1148A>G ENST00000348655.11:p.Gln383Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.021
ToMMo:0.021
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.028

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 605047 OMIM
HGNC 6122 HGNC
Ensembl ENSG00000185507 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41272341 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts immunodeficiency 39 germline Detail
not provided no assertion provided not provided unknown Detail
Benign 2024-01-24 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.256 Lupus Erythematosus, Systemic We genotyped one KIAA1542 SNP (rs4963128) and one IRF7 SNP (rs1131665 [Q412R]) i... BeFree 21360504 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001572.5(IRF7):c.1235A>G (p.Gln412Arg) AND Immunodeficiency 39 ClinVar Detail
NM_001572.5(IRF7):c.1235A>G (p.Gln412Arg) AND not provided ClinVar Detail
NM_001572.5(IRF7):c.1235A>G (p.Gln412Arg) AND not specified ClinVar Detail
We genotyped one KIAA1542 SNP (rs4963128) and one IRF7 SNP (rs1131665 [Q412R]) in an Asian populatio... 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
rs1131665 dbSNP
Genome
hg38
Position
chr11:613,208-613,208
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
122.32
Standard deviation of sample read depth (HGVD)
60.93
Number of reference allele (HGVD)
2369
Number of alternative allele (HGVD)
51
Allele Frequency (HGVD)
0.021074380165289255
Gene Symbol (HGVD)
IRF7
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))
rs1131665
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0213
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
357
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8306
East Asian Allele Counts (ExAC)
236
East Asian Heterozygous Counts (ExAC)
228
East Asian Homozygous Counts (ExAC)
4
East Asian Allele Frequency (ExAC)
0.028413195280520106
Chromosome Counts in All Race (ExAC)
109168
Allele Counts in All Race (ExAC)
27738
Heterozygous Counts in All Race (ExAC)
19886
Homozygous Counts in All Race (ExAC)
3926
Allele Frequency in All Race (ExAC)
0.25408544628462554
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