RGD:28868385 Rat Genome Database

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Variant: RGD:28868385 -  Homo sapiens

RGD ID: 28868385
RS ID: rs1452526339
ClinVar ID: CV881060
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB3GAP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 135,927,623
GRCh38 2 135,170,053
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.135170053T>C
NC_000002.11:g.135927623T>C
NM_001172435.2:c.*1272T>C
NM_012233.3:c.*1272T>C
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_012233
Location:3UTRS;EXON

Gene Symbol:RAB3GAP1
Accession:XM_011510825
Location:3UTRS;EXON

Gene Symbol:RAB3GAP1
Accession:NM_001172435
Location:3UTRS;EXON

Gene Symbol:RAB3GAP1
Accession:XM_047443732
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XM_011510823
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001129903 CLINVAR
dbSNP (RS) rs1452526339 CLINVAR
MedGen C1838625 CLINVAR
NCBI Gene RAB3GAP1 CLINVAR
OMIM 600118 CLINVAR
  602536 CLINVAR