RGD:28877790 Rat Genome Database

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Variant: RGD:28877790 -  Homo sapiens

RGD ID: 28877790
RS ID: rs1175250342
ClinVar ID: CV881053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB3GAP1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 135,927,173
GRCh38 2 135,169,603
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172435.2:c.*822T>G
NM_012233.3:c.*822T>G
NG_016972.1:g.122339T>G
NC_000002.12:g.135169603T>G
More... 		01/13/2018 3 prime utr variant uncertain significance Microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAB3GAP1
Accession:NM_001172435
Location:3UTRS;EXON

Gene Symbol:RAB3GAP1
Accession:NM_012233
Location:3UTRS;EXON

Gene Symbol:RAB3GAP1
Accession:XM_011510823
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XM_011510825
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XM_047443732
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XR_001738674
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001134919 CLINVAR
dbSNP (RS) rs1175250342 CLINVAR
MedGen C1838625 CLINVAR
NCBI Gene RAB3GAP1 CLINVAR
OMIM 600118 CLINVAR
  602536 CLINVAR