RGD:405049894 Rat Genome Database

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Variant: RGD:405049894 -  Homo sapiens

RGD ID: 405049894
ClinVar ID: CV3052686
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 105,238,683
GRCh38 14 104,772,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_721t2:c.1260+19T>C
NM_001014431.2:c.1260+19T>C
NM_001014432.2:c.1260+19T>C
NM_001382430.1:c.1260+19T>C
More... 		01/03/2023 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AKT1
Accession:NM_001014431
Location:INTRON

Gene Symbol:AKT1
Accession:NM_001014432
Location:INTRON

Gene Symbol:AKT1
Accession:NM_005163
Location:INTRON

Gene Symbol:AKT1
Accession:NM_001382430
Location:INTRON

Gene Symbol:AKT1
Accession:NM_001382433
Location:INTRON

Gene Symbol:AKT1
Accession:NM_001382431
Location:INTRON

Gene Symbol:AKT1
Accession:NM_001382432
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431075
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431074
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431069
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431071
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431072
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431070
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431073
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003654674 CLINVAR
MedGen C3554519 CLINVAR
NCBI Gene AKT1 CLINVAR
OMIM 164730 CLINVAR
  615109 CLINVAR