RGD:11594830 Rat Genome Database

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Variant: RGD:11594830 -  Homo sapiens

RGD ID: 11594830
RS ID: rs116874993
ClinVar ID: CV294207
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IQCG  RPL35A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 197,682,650
GRCh38 3 197,955,779
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_033072.1:g.9237G>A
NG_011743.1:g.10599C>T
NC_000003.12:g.197955779C>T
NC_000003.11:g.197682650C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign neonatal/infancy AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RPL35A
Accession:NM_000996
Location:3UTRS;EXON

Gene Symbol:RPL35A
Accession:NM_001316311
Location:3UTRS;EXON

Gene Symbol:IQCG
Accession:XM_024453790
Location:5UTRS;INTRON

Gene Symbol:IQCG
Accession:NM_001323029
Location:5UTRS;INTRON

Gene Symbol:IQCG
Accession:NM_001323028
Location:5UTRS;INTRON

Gene Symbol:IQCG
Accession:NM_032263
Location:5UTRS;INTRON

Gene Symbol:IQCG
Accession:NM_001134435
Location:INTRON

Gene Symbol:IQCG
Accession:NM_001323027
Location:INTRON

Gene Symbol:IQCG
Accession:NM_001323030
Location:INTRON

Gene Symbol:IQCG
Accession:XR_007095755
Location:INTRON;NON-CODING

Gene Symbol:IQCG
Accession:XR_007095756
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000363453 CLINVAR
  RCV000501568 CLINVAR
  RCV003932394 CLINVAR
dbSNP (RS) rs116874993 CLINVAR
MedGen C2675859 CLINVAR
  CN169374 CLINVAR
NCBI Gene IQCG CLINVAR
  RPL35A CLINVAR
OMIM 180468 CLINVAR
  612477 CLINVAR
  612528 CLINVAR