chr2:38298338:C>T Detail (hg19) (CYP1B1)

Information

Genome

Assembly Position
hg19 chr2:38,298,338-38,298,338
hg38 chr2:38,071,195-38,071,195 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000104.3:c.1159G>A NP_000095.2:p.Glu387Lys
Ensemble ENST00000490576.2:c.1159G>A ENST00000490576.2:p.Glu387Lys
ENST00000494864.1:c.46G>A ENST00000494864.1:p.Glu16Lys
Summary

MGeND

Clinical significance
Variant entry
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 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2020-05-14 criteria provided, multiple submitters, no conflicts Glaucoma 3A germline maternal unknown Detail
Pathogenic 2022-08-12 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-05-13 criteria provided, single submitter Glaucoma of childhood germline Detail
Pathogenic 2024-01-25 criteria provided, single submitter Congenital glaucoma germline Detail
Pathogenic 2021-04-09 criteria provided, single submitter primary congenital glaucoma germline Detail
Pathogenic 2021-12-27 criteria provided, single submitter anterior segment dysgenesis 6,Glaucoma 3, primary infantile, B,Glaucoma 3A unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter anterior segment dysgenesis 6,Glaucoma 3, primary infantile, B,Glaucoma 3A unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter anterior segment dysgenesis 6,Glaucoma 3, primary infantile, B,Glaucoma 3A unknown Detail
Pathogenic 2023-10-28 criteria provided, single submitter anterior segment dysgenesis 6 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.135 hydrophthalmos NA CLINVAR Detail
0.366 Glaucoma, Primary Open Angle Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) af... UNIPROT 10227395 Detail
0.320 GLAUCOMA 3, PRIMARY CONGENITAL, A Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) af... UNIPROT 10227395 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) AND Glaucoma 3A ClinVar Detail
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) AND not provided ClinVar Detail
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) AND Glaucoma of childhood ClinVar Detail
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) AND Congenital glaucoma ClinVar Detail
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) AND Primary congenital glaucoma ClinVar Detail
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) AND multiple conditions ClinVar Detail
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) AND multiple conditions ClinVar Detail
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) AND multiple conditions ClinVar Detail
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) AND Anterior segment dysgenesis 6 ClinVar Detail
NA DisGeNET Detail
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary ... DisGeNET Detail
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary ... 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
rs55989760 dbSNP
Genome
hg19
Position
chr2:38,298,338-38,298,338
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8578
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)
117890
Allele Counts in All Race (ExAC)
40
Heterozygous Counts in All Race (ExAC)
40
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.3929934684875734E-4
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