RGD:8562623 Rat Genome Database

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Variant: RGD:8562623 -  Homo sapiens

RGD ID: 8562623
RS ID: rs1603426293
ClinVar ID: CV26700
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPS6KA3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 20,212,304
GRCh38 X 20,194,186
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
NM_004586.3:c.486+3A>G
NG_007488.1:g.77447A>G
NC_000023.11:g.20194186T>C
NC_000023.10:g.20212304T>C
More... 		08/13/2013 intron variant pathogenic neonatal/infancy 1-9 / 100 000 Coffin syndrome; COFFIN-LOWRY SYNDROME, MILD; Mental retardation with osteocartilaginous abnormalities
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RPS6KA3
Accession:XM_047442336
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_017029719
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_047442335
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_005274573
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_047442334
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_011545557
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_047442333
Location:INTRON

Gene Symbol:RPS6KA3
Accession:NM_004586
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_017029717
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_011545555
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_005274577
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_011545561
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_011545560
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_011545562
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_017029718
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_011545556
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_047442332
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11992250  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012427 CLINVAR
dbSNP (RS) rs1603426293 CLINVAR
MedGen C0265252 CLINVAR
NCBI Gene RPS6KA3 CLINVAR
OMIM 300075 CLINVAR
  303600 CLINVAR
OMIM Allele 300075.0012 CLINVAR
SNOMED CT 15182000 CLINVAR