RGD:11655550 Rat Genome Database

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Variant: RGD:11655550 -  Homo sapiens

RGD ID: 11655550
RS ID: rs886055995
ClinVar ID: CV289639
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP1B1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 38,297,204
GRCh38 2 38,070,061
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.11041T>A
NC_000002.12:g.38070061A>T
NC_000002.11:g.38297204A>T
NM_000104.4:c.*661T>A
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 RCV000326715 CLINVAR
  RCV000383670 CLINVAR
dbSNP (RS) rs886055995 CLINVAR
MedGen C0344559 CLINVAR
  C1856439 CLINVAR
NCBI Gene CYP1B1 CLINVAR
OMIM 231300 CLINVAR
  601771 CLINVAR
  604229 CLINVAR
SNOMED CT 204153003 CLINVAR