chr15:74722964:C>T Detail (hg38) (CYP1A1)

Information

Genome

Assembly Position
hg19 chr15:75,015,305-75,015,305 View the variant detail on this assembly version.
hg38 chr15:74,722,964-74,722,964

HGVS

Type Transcript Protein
RefSeq NM_000499.4:c.134G>A NP_000490.1:p.Gly45Asp
NM_001319217.1:c.134G>A NP_001306146.1:p.Gly45Asp
NM_001319216.1:c.134G>A NP_001306145.1:p.Gly45Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.145
ToMMo:0.145
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.141

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 108330 OMIM
HGNC 2595 HGNC
Ensembl ENSG00000140465 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53545693 TogoVar
COSMIC COSM3678285 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-21 criteria provided, single submitter CYP1A1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Uterine Fibroids The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-... BeFree 24777039 Detail
0.002 Uterine Fibroids The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-... BeFree 24777039 Detail
0.001 Uterine Fibroids The genetic polymorphisms of IVS1+2329C>T and Val158Met loci in COMT, Ile462V... BeFree 24320736 Detail
0.002 Uterine Fibroids The genetic polymorphisms of IVS1+2329C>T and Val158Met loci in COMT, Ile462V... BeFree 24320736 Detail
0.004 Uterine Fibroids The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-... BeFree 24777039 Detail
0.004 Uterine Fibroids The genetic polymorphisms of IVS1+2329C>T and Val158Met loci in COMT, Ile462V... BeFree 24320736 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001319217.2(CYP1A1):c.134G>A (p.Gly45Asp) AND CYP1A1-related disorder ClinVar Detail
The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-6.345) and rs4680 (V... DisGeNET Detail
The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-6.345) and rs4680 (V... DisGeNET Detail
The genetic polymorphisms of IVS1+2329C>T and Val158Met loci in COMT, Ile462Val and Gly45Asp loci... DisGeNET Detail
The genetic polymorphisms of IVS1+2329C>T and Val158Met loci in COMT, Ile462Val and Gly45Asp loci... DisGeNET Detail
The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-6.345) and rs4680 (V... DisGeNET Detail
The genetic polymorphisms of IVS1+2329C>T and Val158Met loci in COMT, Ile462Val and Gly45Asp loci... 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
-
Genome
hg38
Position
chr15:74,722,964-74,722,964
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1205
Mean of sample read depth (HGVD)
110.37
Standard deviation of sample read depth (HGVD)
52.88
Number of reference allele (HGVD)
2061
Number of alternative allele (HGVD)
349
Allele Frequency (HGVD)
0.14481327800829877
Gene Symbol (HGVD)
CYP1A1
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))
rs4646422
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1454
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2437
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8614
East Asian Allele Counts (ExAC)
1214
East Asian Heterozygous Counts (ExAC)
1036
East Asian Homozygous Counts (ExAC)
89
East Asian Allele Frequency (ExAC)
0.1409333642906896
Chromosome Counts in All Race (ExAC)
121044
Allele Counts in All Race (ExAC)
1257
Heterozygous Counts in All Race (ExAC)
1079
Homozygous Counts in All Race (ExAC)
89
Allele Frequency in All Race (ExAC)
0.010384653514424507
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