RGD:11655810 Rat Genome Database

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Variant: RGD:11655810 -  Homo sapiens

RGD ID: 11655810
RS ID: rs886055989
ClinVar ID: CV289633
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP1B1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 38,295,714
GRCh38 2 38,068,571
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008386.2:g.12531T>C
NC_000002.12:g.38068571A>G
NC_000002.11:g.38295714A>G
NM_000104.4:c.*2151T>C
More... 		06/14/2016 3 prime utr variant uncertain significance ANTERIOR SEGMENT DYSGENESIS 5; Primary congenital glaucoma (disease)
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CYP1B1
Accession:NM_000104
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000328300 CLINVAR
  RCV000385192 CLINVAR
dbSNP (RS) rs886055989 CLINVAR
MedGen C0344559 CLINVAR
  C1533041 CLINVAR
NCBI Gene CYP1B1 CLINVAR
OMIM 601771 CLINVAR
  604229 CLINVAR
SNOMED CT 204153003 CLINVAR