chr2:38075218:C>T Detail (hg38) (CYP1B1)

Information

Genome

Assembly Position
hg19 chr2:38,302,361-38,302,361 View the variant detail on this assembly version.
hg38 chr2:38,075,218-38,075,218

HGVS

Type Transcript Protein
RefSeq NM_000104.3:c.171G>A NP_000095.2:p.Trp57Ter
Ensemble ENST00000490576.2:c.171G>A ENST00000490576.2:p.Trp57Ter
ENST00000494864.1:c.-70-3908G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 tgv6524284 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-03-30 no assertion criteria provided Irido-corneo-trabecular dysgenesis paternal Detail
Pathogenic 2013-11-26 criteria provided, multiple submitters, no conflicts Glaucoma 3A germline Detail
Pathogenic 2024-01-17 criteria provided, multiple submitters, no conflicts CYP1B1-related disorder germline Detail
Pathogenic 2023-10-26 criteria provided, multiple submitters, no conflicts anterior segment dysgenesis 6 germline unknown Detail
Pathogenic Likely pathogenic 2023-01-10 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-16 criteria provided, single submitter Congenital glaucoma germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter anterior segment dysgenesis 6,Glaucoma 3, primary infantile, B,Glaucoma 3A unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter anterior segment dysgenesis 6,Glaucoma 3, primary infantile, B,Glaucoma 3A unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter anterior segment dysgenesis 6,Glaucoma 3, primary infantile, B,Glaucoma 3A unknown Detail
Pathogenic 2020-03-31 no assertion criteria provided anterior segment dysgenesis biparental Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.135 hydrophthalmos NA CLINVAR Detail
0.361 Irido-corneo-trabecular dysgenesis (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) AND Irido-corneo-trabecular dysgenesis ClinVar Detail
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) AND Glaucoma 3A ClinVar Detail
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) AND CYP1B1-related disorder ClinVar Detail
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) AND Anterior segment dysgenesis 6 ClinVar Detail
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) AND not provided ClinVar Detail
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) AND Congenital glaucoma ClinVar Detail
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) AND multiple conditions ClinVar Detail
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) AND multiple conditions ClinVar Detail
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) AND multiple conditions ClinVar Detail
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) AND Anterior segment dysgenesis ClinVar Detail
NA DisGeNET Detail
NA 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
rs72549387 dbSNP
Genome
hg38
Position
chr2:38,075,218-38,075,218
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs72549387
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
3546
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
50846
Allele Counts in All Race (ExAC)
21
Heterozygous Counts in All Race (ExAC)
21
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.130118396727373E-4
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