RGD:407574180 Rat Genome Database

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Variant: RGD:407574180 -  Homo sapiens

RGD ID: 407574180
ClinVar ID: CV3498553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKAP9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 91,700,218
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005751.4:c.6508-1G>A
NM_001379277.1:c.1153-1G>A
NM_147185.3:c.6484-1G>A
NM_005751.5:c.6508-1G>A
More... 		07/29/2024 splice acceptor variant uncertain significance AKAP9-related condition; AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004703029 CLINVAR
  RCV004747452 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AKAP9 CLINVAR
OMIM 604001 CLINVAR