RGD:11651949 Rat Genome Database

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Variant: RGD:11651949 -  Homo sapiens

RGD ID: 11651949
RS ID: rs886046018
ClinVar ID: CV280877
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB3GAP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 220,325,114
GRCh38 1 220,151,772
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.220151772T>C
NC_000001.10:g.220325114T>C
NM_012414.4:c.3868-8A>G
NG_015837.1:g.125730A>G
More... 		09/29/2023 intron variant likely benign|uncertain significance neonatal <1 / 1 000 000 Cataract mental retardation hypogonadism; Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome; MICRO SYNDROME 2; Warburg micro syndrome 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAB3GAP2
Accession:NM_012414
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000301829 CLINVAR
  RCV000404770 CLINVAR
  RCV003765718 CLINVAR
dbSNP (RS) rs886046018 CLINVAR
MedGen C0796037 CLINVAR
  C3280214 CLINVAR
NCBI Gene RAB3GAP2 CLINVAR
OMIM 609275 CLINVAR
  614225 CLINVAR
SNOMED CT 722380003 CLINVAR