RGD:402484394 Rat Genome Database

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Variant: RGD:402484394 -  Homo sapiens

RGD ID: 402484394
ClinVar ID: CV3036818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIP  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 67,250,737
GRCh38 11 67,483,266
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001302960.2:c.99+9C>G
NM_003977.4:c.99+9C>G
LRG_460:g.5233C>G
NG_008969.1:g.5233C>G
More... 		03/11/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AIP
Accession:NM_003977
Location:INTRON

Gene Symbol:AIP
Accession:NM_001302960
Location:INTRON

Gene Symbol:AIP
Accession:NM_001302959
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003713156 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AIP CLINVAR
OMIM 605555 CLINVAR