chr12:68552492:CGAG> Detail (hg19) (IFNG)

Information

Genome

Assembly Position
hg19 chr12:68,552,492-68,552,495
hg38 chr12:68,158,712-68,158,715 

HGVS

Type Transcript Protein
RefSeq NM_000619.2:c.115-456_115-453delCTCG
Ensemble ENST00000229135.4:c.115-456_115-453delCTCG
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 147570 OMIM
HGNC 5438 HGNC
Ensembl ENSG00000111537 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
<0.001 malaria The TA11CAG haplotype (rs2069705 T/C, rs2430561 A/T, rs3138557 (CA)n, rs2069718 ... BeFree 25445652 Detail
<0.001 Leprosy, Multibacillary However, we found that variants rs692527 (P = 0.022) and rs34856358 (P = 0.022) ... BeFree 22392581 Detail
<0.001 Leprosy, Multibacillary However, we found that variants rs692527 (P = 0.022) and rs34856358 (P = 0.022) ... BeFree 22392581 Detail
<0.001 Leprosy, Paucibacillary However, we found that variants rs692527 (P = 0.022) and rs34856358 (P = 0.022) ... BeFree 22392581 Detail
Annotation

Annotations

DescrptionSourceLinks
The TA11CAG haplotype (rs2069705 T/C, rs2430561 A/T, rs3138557 (CA)n, rs2069718 T/C, rs2069727 A/G, ... DisGeNET Detail
However, we found that variants rs692527 (P = 0.022) and rs34856358 (P = 0.022) of the MRC1 gene wer... DisGeNET Detail
However, we found that variants rs692527 (P = 0.022) and rs34856358 (P = 0.022) of the MRC1 gene wer... DisGeNET Detail
However, we found that variants rs692527 (P = 0.022) and rs34856358 (P = 0.022) of the MRC1 gene wer... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3138557 dbSNP
Genome
hg19
Position
chr12:68,552,492-68,552,495
Variant Type
snv
Reference Allele
CGAG
Alternative Allele
-
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