RGD:405706314 Rat Genome Database

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Variant: RGD:405706314 -  Homo sapiens

RGD ID: 405706314
ClinVar ID: CV3383790
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKAP9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 91,621,526
GRCh38 7 91,992,212
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_331t1:c.405+1G>A
NM_005751.5:c.405+1G>A
NM_147185.3:c.405+1G>A
LRG_331:g.56338G>A
More... 		09/21/2023 splice donor variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:AKAP9
Accession:NM_005751
Location:INTRON

Gene Symbol:AKAP9
Accession:NM_147185
Location:INTRON

Gene Symbol:AKAP9
Accession:NM_001379277
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004521746 CLINVAR
MedGen CN230736 CLINVAR
NCBI Gene AKAP9 CLINVAR
OMIM 604001 CLINVAR