chr11:126290792:A>G Detail (hg38) (TIRAP)

Information

Genome

Assembly Position
hg19 chr11:126,160,687-126,160,687 View the variant detail on this assembly version.
hg38 chr11:126,290,792-126,290,792

HGVS

Type Transcript Protein
RefSeq NM_001318776.1:c.-92-11A>G
NM_148910.2:c.-92-11A>G
NM_001318777.1:c.-92-11A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.027
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606252 OMIM
HGNC 17192 HGNC
Ensembl ENSG00000150455 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44425334 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-24 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Tuberculosis, Pulmonary To evaluate the possible association between Toll-interleukin 1 receptor (TIR) d... BeFree 25066393 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001318777.2(TIRAP):c.-92-11A>G AND not specified ClinVar Detail
To evaluate the possible association between Toll-interleukin 1 receptor (TIR) domain containing ada... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr11:126,290,792-126,290,792
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))
rs1893352
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0267
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
447
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Genome browser