RGD:126727563 Rat Genome Database

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Variant: RGD:126727563 -  Homo sapiens

RGD ID: 126727563
RS ID: rs2067519822
ClinVar ID: CV1018965
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPS6KA3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 20,187,514
GRCh38 X 20,169,396
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004586.2:c.1443+6T>C
NC_000023.11:g.20169396A>G
NC_000023.10:g.20187514A>G
NM_004586.3:c.1443+6T>C
More... 		05/04/2020 intron variant uncertain significance 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_017029719
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_005274573
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_011545556
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_017029717
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_011545562
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_005274577
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_017029718
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_011545561
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_047442332
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_047442334
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_047442333
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_047442336
Location:INTRON

Gene Symbol:RPS6KA3
Accession:NM_004586
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_011545557
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_047442335
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_011545560
Location:INTRON

Gene Symbol:RPS6KA3
Accession:XM_011545555
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001332485 CLINVAR
dbSNP (RS) rs2067519822 CLINVAR
MedGen C0265252 CLINVAR
NCBI Gene RPS6KA3 CLINVAR
OMIM 300075 CLINVAR
  303600 CLINVAR
SNOMED CT 15182000 CLINVAR