chr2:38071251:C>T Detail (hg38) (CYP1B1)

Information

Genome

Assembly Position
hg19 chr2:38,298,394-38,298,394 View the variant detail on this assembly version.
hg38 chr2:38,071,251-38,071,251

HGVS

Type Transcript Protein
RefSeq NM_000104.3:c.1103G>A NP_000095.2:p.Arg368His
Ensemble ENST00000490576.2:c.1103G>A ENST00000490576.2:p.Arg368His
ENST00000494864.1:c.-11G>A
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

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

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 tgv307370835 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other unknown MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2011-03-01 no assertion criteria provided Glaucoma, early-onset, digenic germline Detail
Conflicting interpretations of pathogenicity 2024-03-25 criteria provided, conflicting interpretations Glaucoma 3A germline maternal paternal unknown Detail
Uncertain significance 2012-03-30 no assertion criteria provided Congenital ocular coloboma maternal Detail
Conflicting interpretations of pathogenicity 2023-07-01 criteria provided, conflicting interpretations not provided germline Detail
not provided no assertion provided Glaucoma 3A,Irido-corneo-trabecular dysgenesis unknown Detail
not provided no assertion provided Glaucoma 3A,Irido-corneo-trabecular dysgenesis unknown Detail
Conflicting interpretations of pathogenicity 2024-01-17 criteria provided, conflicting interpretations CYP1B1-related disorder germline Detail
Uncertain significance 2023-08-07 criteria provided, multiple submitters, no conflicts not specified germline Detail
Pathogenic 2024-01-31 criteria provided, single submitter Congenital glaucoma germline Detail
Uncertain significance criteria provided, single submitter Myopathy, centronuclear, 5 germline Detail
Uncertain significance 2022-04-14 criteria provided, single submitter anterior segment dysgenesis 6 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 GLAUCOMA 3, PRIMARY CONGENITAL, A Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segr... UNIPROT 10655546 Detail
0.135 hydrophthalmos NA CLINVAR Detail
0.366 Glaucoma, Primary Open Angle One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mut... BeFree 15723004 Detail
0.025 primary congenital glaucoma One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mut... BeFree 15723004 Detail
0.240 Glaucoma 1, open angle, A Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segr... UNIPROT 10655546 Detail
0.025 primary congenital glaucoma Identification of R368H as a predominant CYP1B1 allele causing primary congenita... BeFree 14507861 Detail
0.094 glaucoma On screening these patients for mutations in myocilin (MYOC), another glaucoma-a... BeFree 15733270 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) AND Glaucoma, early-onset, digenic ClinVar Detail
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) AND Glaucoma 3A ClinVar Detail
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) AND Congenital ocular coloboma ClinVar Detail
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) AND not provided ClinVar Detail
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) AND multiple conditions ClinVar Detail
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) AND multiple conditions ClinVar Detail
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) AND CYP1B1-related disorder ClinVar Detail
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) AND not specified ClinVar Detail
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) AND Congenital glaucoma ClinVar Detail
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) AND Myopathy, centronuclear, 5 ClinVar Detail
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) AND Anterior segment dysgenesis 6 ClinVar Detail
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary cong... DisGeNET Detail
NA DisGeNET Detail
One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mutation (c.1656C&gt;T,... DisGeNET Detail
One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mutation (c.1656C&gt;T,... DisGeNET Detail
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary cong... DisGeNET Detail
Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian... DisGeNET Detail
On screening these patients for mutations in myocilin (MYOC), another glaucoma-associated gene, usin... 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
rs79204362 dbSNP
Genome
hg38
Position
chr2:38,071,251-38,071,251
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8526
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)
116190
Allele Counts in All Race (ExAC)
716
Heterozygous Counts in All Race (ExAC)
696
Homozygous Counts in All Race (ExAC)
10
Allele Frequency in All Race (ExAC)
0.006162320337378432
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