chr2:38071261:C>G Detail (hg38) (CYP1B1)

Information

Genome

Assembly Position
hg19 chr2:38,298,404-38,298,404 View the variant detail on this assembly version.
hg38 chr2:38,071,261-38,071,261

HGVS

Type Transcript Protein
RefSeq NM_000104.3:c.1093G>C NP_000095.2:p.Gly365Arg
Ensemble ENST00000490576.2:c.1093G>C ENST00000490576.2:p.Gly365Arg
ENST00000494864.1:c.-21G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.135 hydrophthalmos NA CLINVAR Detail
0.135 hydrophthalmos Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp... BeFree 12807732 Detail
0.320 GLAUCOMA 3, PRIMARY CONGENITAL, A We recently reported three truncating mutations of the cytochrome P4501B1 gene (... UNIPROT 9497261 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp, Asp374Asn, Pro437L... DisGeNET Detail
We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five fami... 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
rs55771538 dbSNP
Genome
hg38
Position
chr2:38,071,261-38,071,261
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser