RGD:14730184 Rat Genome Database

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Variant: RGD:14730184 -  Homo sapiens

RGD ID: 14730184
RS ID: rs62085969
ClinVar ID: CV669343
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GGA3  LOC127887930  MRPS7  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 73,258,087
GRCh38 17 75,262,006
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172703.3:c.-177+276G>C
NM_001172704.3:c.-228+276G>C
NC_000017.11:g.75262006C>G
NC_000017.10:g.73258087C>G
More... 		06/14/2018 intron variant benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:GGA3
Accession:NM_001172703
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:GGA3
Accession:NM_001172704
Location:5UTRS;INTRON

Gene Symbol:GGA3
Accession:NM_014001
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GGA3
Accession:NM_138619
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MRPS7
Accession:NM_015971
Location:INTRON

Gene Symbol:GGA3
Accession:NM_001291642
Location:INTRON

Gene Symbol:GGA3
Accession:NM_001291641
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000835554 CLINVAR
  RCV001776055 CLINVAR
dbSNP (RS) rs62085969 CLINVAR
MedGen C3661900 CLINVAR
  C4693450 CLINVAR
NCBI Gene GGA3 CLINVAR
  MRPS7 CLINVAR
OMIM 606006 CLINVAR
  611974 CLINVAR
  617872 CLINVAR