chr4:68649245:G>A Detail (hg38) (UGT2B15)

Information

Genome

Assembly Position
hg19 chr4:69,514,963-69,514,963 View the variant detail on this assembly version.
hg38 chr4:68,649,245-68,649,245

HGVS

Type Transcript Protein
RefSeq NM_001076.3:c.1314-1862C>T
Ensemble ENST00000338206.6:c.1314-1862C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.160
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 600069 OMIM
HGNC 12546 HGNC
Ensembl ENSG00000196620 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv17351112 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 Rectal Carcinoma A haplotype in UGT2B15 containing a functional variant (rs4148269, K523T) and an... BeFree 24822274 Detail
Annotation

Annotations

DescrptionSourceLinks
A haplotype in UGT2B15 containing a functional variant (rs4148269, K523T) and an intronic SNP (rs683... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6837575 dbSNP
Genome
hg38
Position
chr4:68,649,245-68,649,245
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs6837575
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1604
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2689
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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