RGD:11588990 Rat Genome Database

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Variant: RGD:11588990 -  Homo sapiens

RGD ID: 11588990
RS ID: rs562799717
ClinVar ID: CV289265
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP1B1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 38,296,374
GRCh38 2 38,069,231
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.11871G>T
NC_000002.12:g.38069231C>A
NC_000002.11:g.38296374C>A
NM_000104.3:c.*1491G>T
More... 		01/13/2018 3 prime utr variant uncertain significance ANTERIOR SEGMENT DYSGENESIS 5; Glaucoma 3, primary congenital, A
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000307172 CLINVAR
  RCV000364113 CLINVAR
dbSNP (RS) rs562799717 CLINVAR
MedGen C0344559 CLINVAR
  C1856439 CLINVAR
NCBI Gene CYP1B1 CLINVAR
OMIM 231300 CLINVAR
  601771 CLINVAR
  604229 CLINVAR
SNOMED CT 204153003 CLINVAR