RGD:11584538 Rat Genome Database

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Variant: RGD:11584538 -  Homo sapiens

RGD ID: 11584538
RS ID: rs535968000
ClinVar ID: CV279330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB3GAP2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 220,445,765
GRCh38 1 220,272,423
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000001.11:g.220272423A>G
NC_000001.10:g.220445765A>G
NM_012414.4:c.-86T>C
NG_015837.2:g.5079T>C
More... 		06/14/2016 5 prime utr variant uncertain significance neonatal <1 / 1 000 000 Cataract mental retardation hypogonadism; Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAB3GAP2
Accession:NM_012414
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000274700 CLINVAR
  RCV000318093 CLINVAR
dbSNP (RS) rs535968000 CLINVAR
MedGen C0796037 CLINVAR
  C3280214 CLINVAR
NCBI Gene RAB3GAP2 CLINVAR
OMIM 609275 CLINVAR
  614225 CLINVAR
SNOMED CT 722380003 CLINVAR