chr4:15778830:C>G Detail (hg38) (CD38)

Information

Genome

Assembly Position
hg19 chr4:15,780,453-15,780,453 View the variant detail on this assembly version.
hg38 chr4:15,778,830-15,778,830

HGVS

Type Transcript Protein
RefSeq NM_001775.3:c.233+183C>G
Ensemble ENST00000226279.8:c.233+183C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.031
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 107270 OMIM
HGNC 1667 HGNC
Ensembl ENSG00000004468 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv16222176 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
0.016 Lymphoma, Non-Hodgkin Given the importance of understanding the genetic variations involved in the pat... BeFree 25564959 Detail
0.071 chronic lymphocytic leukemia [A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia tr... GAD 21121903 Detail
0.009 lymphoma [A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia tr... GAD 21121903 Detail
0.002 Atrial Septal Defects In addition, analysis of the role of genetic polymorphisms in the dynamics of th... BeFree 21528155 Detail
Annotation

Annotations

DescrptionSourceLinks
Given the importance of understanding the genetic variations involved in the pathogenesis of non-Hod... DisGeNET Detail
[A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Rich... DisGeNET Detail
[A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Rich... DisGeNET Detail
In addition, analysis of the role of genetic polymorphisms in the dynamics of the molecule revealed ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6449182 dbSNP
Genome
hg38
Position
chr4:15,778,830-15,778,830
Variant Type
snv
Reference Allele
C
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))
rs6449182
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0308
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
517
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser