chr2:38071044:G>A Detail (hg38) (CYP1B1, LOC128772254)

Information

Genome

Assembly Position
hg19 chr2:38,298,187-38,298,187 View the variant detail on this assembly version.
hg38 chr2:38,071,044-38,071,044

HGVS

Type Transcript Protein
RefSeq NM_000104.3:c.1310C>T NP_000095.2:p.Pro437Leu
Ensemble ENST00000490576.2:c.1310C>T ENST00000490576.2:p.Pro437Leu
ENST00000494864.1:c.197C>T ENST00000494864.1:p.Pro66Leu
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 tgv307370832 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-06-13 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-03-06 criteria provided, single submitter anterior segment dysgenesis 6 unknown Detail
Pathogenic 2023-12-21 criteria provided, single submitter Congenital glaucoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.135 hydrophthalmos Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp... BeFree 12807732 Detail
0.320 GLAUCOMA 3, PRIMARY CONGENITAL, A Molecular genetics of primary congenital glaucoma in Brazil. UNIPROT 12036985 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
Annotation

Annotations

DescrptionSourceLinks
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu) AND not provided ClinVar Detail
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu) AND Anterior segment dysgenesis 6 ClinVar Detail
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu) AND Congenital glaucoma ClinVar Detail
Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp, Asp374Asn, Pro437L... DisGeNET Detail
Molecular genetics of primary congenital glaucoma in Brazil. 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

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
rs56175199 dbSNP
Genome
hg38
Position
chr2:38,071,044-38,071,044
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121396
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.237503706876667E-6
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