chr2:38074431:C>A Detail (hg38) (CYP1B1)

Information

Genome

Assembly Position
hg19 chr2:38,301,574-38,301,574 View the variant detail on this assembly version.
hg38 chr2:38,074,431-38,074,431

HGVS

Type Transcript Protein
RefSeq NM_000104.3:c.958G>T NP_000095.2:p.Val320Leu
Ensemble ENST00000490576.2:c.958G>T ENST00000490576.2:p.Val320Leu
ENST00000494864.1:c.-70-3121G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.003
ToMMo:0.004
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.003

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 601771 OMIM
HGNC 2597 HGNC
Ensembl ENSG00000138061 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv6524077 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2016-05-17 criteria provided, single submitter not provided germline Detail
Uncertain significance 2018-10-23 criteria provided, multiple submitters, no conflicts Glaucoma 3A germline Detail
Uncertain significance 2022-04-11 criteria provided, single submitter anterior segment dysgenesis 6,Glaucoma 3A,Glaucoma 3, primary infantile, B unknown Detail
Uncertain significance 2022-04-11 criteria provided, single submitter anterior segment dysgenesis 6,Glaucoma 3A,Glaucoma 3, primary infantile, B unknown Detail
Uncertain significance 2022-04-11 criteria provided, single submitter anterior segment dysgenesis 6,Glaucoma 3A,Glaucoma 3, primary infantile, B unknown Detail
Uncertain significance 2023-12-12 criteria provided, single submitter not specified germline Detail
Benign 2024-01-26 criteria provided, single submitter Congenital glaucoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 GLAUCOMA 3, PRIMARY CONGENITAL, A Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with prima... UNIPROT 11527932 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) AND not provided ClinVar Detail
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) AND Glaucoma 3A ClinVar Detail
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) AND multiple conditions ClinVar Detail
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) AND multiple conditions ClinVar Detail
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) AND multiple conditions ClinVar Detail
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) AND not specified ClinVar Detail
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) AND Congenital glaucoma ClinVar Detail
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glauco... 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
rs72549382 dbSNP
Genome
hg38
Position
chr2:38,074,431-38,074,431
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
99.31
Standard deviation of sample read depth (HGVD)
47.43
Number of reference allele (HGVD)
2406
Number of alternative allele (HGVD)
8
Allele Frequency (HGVD)
0.0033140016570008283
Gene Symbol (HGVD)
CYP1B1
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))
rs72549382
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0043
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
72
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8098
East Asian Allele Counts (ExAC)
27
East Asian Heterozygous Counts (ExAC)
27
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.003334156581872067
Chromosome Counts in All Race (ExAC)
111962
Allele Counts in All Race (ExAC)
30
Heterozygous Counts in All Race (ExAC)
30
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.679480538039692E-4
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