chr19:41524153:T>C Detail (hg19) (CYP2B6)

Information

Genome

Assembly Position
hg19 chr19:41,524,153-41,524,153
hg38 chr19:41,018,248-41,018,248 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000767.4:c.*1421T>C
Ensemble ENST00000324071.10:c.*1421T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.259
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 123930 OMIM
HGNC 2615 HGNC
Ensembl ENSG00000197408 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62120710 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 Hirschsprung Disease Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Dis... BeFree 25424204 Detail
<0.001 Hirschsprung disease 1 Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Dis... BeFree 25424204 Detail
<0.001 male infertility Novel interactions were also observed between the MR of SEC and rs1042389 in CYP... BeFree 24488272 Detail
0.132 male infertility Novel interactions were also observed between the MR of SEC and rs1042389 in CYP... BeFree 24488272 Detail
Annotation

Annotations

DescrptionSourceLinks
Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Po... DisGeNET Detail
Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Po... DisGeNET Detail
Novel interactions were also observed between the MR of SEC and rs1042389 in CYP2B6, rs1048943 in CY... DisGeNET Detail
Novel interactions were also observed between the MR of SEC and rs1042389 in CYP2B6, rs1048943 in CY... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1042389 dbSNP
Genome
hg19
Position
chr19:41,524,153-41,524,153
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1042389
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2587
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4336
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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