RGD:28881500 Rat Genome Database

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Variant: RGD:28881500 -  Homo sapiens

RGD ID: 28881500
RS ID: rs773904586
ClinVar ID: CV863743
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB3GAP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 220,324,515
GRCh38 1 220,151,173
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012414.4:c.*78G>A
NG_015837.2:g.126329G>A
NC_000001.11:g.220151173C>T
NC_000001.10:g.220324515C>T
More... 		04/27/2017 3 prime utr variant uncertain significance 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001096878 CLINVAR
  RCV001096879 CLINVAR
dbSNP (RS) rs773904586 CLINVAR
MedGen C0796037 CLINVAR
  C3280214 CLINVAR
NCBI Gene RAB3GAP2 CLINVAR
OMIM 212720 CLINVAR
  609275 CLINVAR
  614225 CLINVAR
SNOMED CT 722380003 CLINVAR