RGD:28902148 Rat Genome Database

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Variant: RGD:28902148 -  Homo sapiens

RGD ID: 28902148
RS ID: rs1235898139
ClinVar ID: CV884824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP1B1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 38,295,909
GRCh38 2 38,068,766
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.12336A>G
NC_000002.12:g.38068766T>C
NC_000002.11:g.38295909T>C
NM_000104.3:c.*1956A>G
More... 		01/12/2018 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 RCV001143470 CLINVAR
  RCV001143471 CLINVAR
dbSNP (RS) rs1235898139 CLINVAR
MedGen C0344559 CLINVAR
  C1856439 CLINVAR
NCBI Gene CYP1B1 CLINVAR
OMIM 231300 CLINVAR
  601771 CLINVAR
  604229 CLINVAR
SNOMED CT 204153003 CLINVAR