chr19:39248514:TT>G Detail (hg38) (IFNL4)

Information

Genome

Assembly Position
hg19 chr19:39,739,154-39,739,155 View the variant detail on this assembly version.
hg38 chr19:39,248,514-39,248,515

HGVS

Type Transcript Protein
RefSeq NM_001276254.2:c.65_66delinsC NP_001263183.2:p.Glu22AlafsTer159
NR_074079.1:c.65_66delinsC
Ensemble ENST00000606380.2:c.65_66delinsC ENST00000606380.2:p.Glu22AlafsTer159
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 615090 OMIM
HGNC 44480 HGNC
Ensembl ENSG00000272395 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
0.005 hepatitis C Interferon-λ4-related dinucleotide variant rs368234815 TT/-G is strongly linked ... BeFree 24724563 Detail
0.095 Hepatitis C, Chronic Recent studies in chronic hepatitis C patients have shown that rs368234815 polym... BeFree 25130512 Detail
<0.001 retinitis To analyze the association of newly identified IFNL3/4 variant rs368234815 with ... BeFree 25259701 Detail
Annotation

Annotations

DescrptionSourceLinks
Interferon-λ4-related dinucleotide variant rs368234815 TT/-G is strongly linked with rs12979860 poly... DisGeNET Detail
Recent studies in chronic hepatitis C patients have shown that rs368234815 polymorphism nearby IL28B... DisGeNET Detail
To analyze the association of newly identified IFNL3/4 variant rs368234815 with susceptibility to CM... 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
rs368234815 dbSNP
Genome
hg38
Position
chr19:39,248,514-39,248,515
Variant Type
snv
Reference Allele
TT
Alternative Allele
G
Genome browser