RGD:25328880 Rat Genome Database

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Variant: RGD:25328880 -  Homo sapiens

RGD ID: 25328880
RS ID: rs907846305
ClinVar ID: CV815508
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 67,256,733
GRCh38 11 67,489,262
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_460t1:c.280-5C>T
NM_001302960.2:c.280-5C>T
NM_003977.4:c.280-5C>T
LRG_460:g.11229C>T
More... 		10/11/2020 intron variant likely benign|uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AIP
Accession:NM_001302960
Location:INTRON

Gene Symbol:AIP
Accession:NM_001302959
Location:INTRON

Gene Symbol:AIP
Accession:NM_003977
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001016631 CLINVAR
  RCV001423989 CLINVAR
dbSNP (RS) rs907846305 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene AIP CLINVAR
OMIM 605555 CLINVAR
SNOMED CT 699346009 CLINVAR