chr2:38070949:G>A Detail (hg38) (CYP1B1, LOC128772254)

Information

Genome

Assembly Position
hg19 chr2:38,298,092-38,298,092 View the variant detail on this assembly version.
hg38 chr2:38,070,949-38,070,949

HGVS

Type Transcript Protein
RefSeq NM_000104.3:c.1405C>T NP_000095.2:p.Arg469Trp
Ensemble ENST00000490576.2:c.1405C>T ENST00000490576.2:p.Arg469Trp
ENST00000494864.1:c.292C>T ENST00000494864.1:p.Arg98Trp
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 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
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 2024-03-17 criteria provided, multiple submitters, no conflicts Glaucoma 3A germline unknown Detail
Pathogenic 2023-06-12 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-26 criteria provided, single submitter Congenital glaucoma germline Detail
Pathogenic 2023-02-03 criteria provided, single submitter primary congenital glaucoma germline Detail
Pathogenic 2023-09-26 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
Annotation

Annotations

DescrptionSourceLinks
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) AND Glaucoma 3A ClinVar Detail
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) AND not provided ClinVar Detail
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) AND Congenital glaucoma ClinVar Detail
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) AND Primary congenital glaucoma ClinVar Detail
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) 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

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
rs28936701 dbSNP
Genome
hg38
Position
chr2:38,070,949-38,070,949
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
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)
121400
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.942339373970346E-5
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