chr19:39734923:A>G Detail (hg19) (IFNL3)

Information

Genome

Assembly Position
hg19 chr19:39,734,923-39,734,923
hg38 chr19:39,244,283-39,244,283 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_172139.2:c.259-126T>C
Ensemble ENST00000413851.3:c.259-126T>C
ENST00000613087.5:c.271-126T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.105
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 607402 OMIM
HGNC 18365 HGNC
Ensembl ENSG00000197110 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62049572 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2021-03-24 reviewed by expert panel germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.220 hepatitis C This study demonstrated that Indonesian patients with chronic hepatitis C (mostl... BeFree 24696021 Detail
0.220 hepatitis C To estimate the impact of interleukin 28B (IL28B) polymorphisms (rs12980275, rs8... BeFree 23135173 Detail
0.033 HIV Infections The major alleles of IL28B (rs12980275 A, rs11881222 A, rs8099917 T, and rs72486... BeFree 23103287 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_172139.4(IFNL3):c.259-126T>C AND peginterferon alfa-2b response - Efficacy ClinVar Detail
NM_172139.4(IFNL3):c.259-126T>C AND ribavirin response - Efficacy ClinVar Detail
NM_172139.4(IFNL3):c.259-126T>C AND peginterferon alfa-2a response - Efficacy ClinVar Detail
This study demonstrated that Indonesian patients with chronic hepatitis C (mostly ethnic Java people... DisGeNET Detail
To estimate the impact of interleukin 28B (IL28B) polymorphisms (rs12980275, rs8099917, rs7248668, a... DisGeNET Detail
The major alleles of IL28B (rs12980275 A, rs11881222 A, rs8099917 T, and rs7248668 G) are associated... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11881222 dbSNP
Genome
hg19
Position
chr19:39,734,923-39,734,923
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs11881222
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1046
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1753
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
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