chr2:242793912:C>T Detail (hg19) (PDCD1)

Information

Genome

Assembly Position
hg19 chr2:242,793,912-242,793,912
hg38 chr2:241,851,760-241,851,760 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005018.2:c.627+189G>A
Ensemble ENST00000334409.10:c.627+189G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600244 OMIM
HGNC 8760 HGNC
Ensembl ENSG00000188389 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
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-06-19 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Sepsis Ninety-day survival rate of patients with sepsis relates to programmed cell deat... BeFree 24463978 Detail
0.180 Lupus Erythematosus, Systemic [The genetic contribution towards predicting early-onset disease in patients wit... GAD 20881011 Detail
0.180 Lupus Erythematosus, Systemic Previous investigations have also demonstrated that an intronic polymorphism (te... BeFree 17535987 Detail
<0.001 Septicemia Ninety-day survival rate of patients with sepsis relates to programmed cell deat... BeFree 24463978 Detail
0.015 rheumatoid arthritis Previous investigations have also demonstrated that an intronic polymorphism (te... BeFree 17535987 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005018.3(PDCD1):c.627+189G>A AND not provided ClinVar Detail
Ninety-day survival rate of patients with sepsis relates to programmed cell death 1 genetic polymorp... DisGeNET Detail
[The genetic contribution towards predicting early-onset disease in patients with SLE is quantified ... DisGeNET Detail
Previous investigations have also demonstrated that an intronic polymorphism (termed PD1.3; SNP ID r... DisGeNET Detail
Ninety-day survival rate of patients with sepsis relates to programmed cell death 1 genetic polymorp... DisGeNET Detail
Previous investigations have also demonstrated that an intronic polymorphism (termed PD1.3; SNP ID r... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11568821 dbSNP
Genome
hg19
Position
chr2:242,793,912-242,793,912
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser