RGD:156048466 Rat Genome Database

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Variant: RGD:156048466 -  Homo sapiens

RGD ID: 156048466
ClinVar ID: CV2186590
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKAP9  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 91,672,088
GRCh38 7 92,042,774
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005751.5:c.5162+3A>G
NM_147185.3:c.5162+3A>G
LRG_331:g.106900A>G
NG_011623.1:g.106900A>G
More... 		05/03/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

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 References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003036826 CLINVAR
MedGen C0023976 CLINVAR
NCBI Gene AKAP9 CLINVAR
OMIM 604001 CLINVAR
SNOMED CT 9651007 CLINVAR