RGD:15099820 Rat Genome Database

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Variant: RGD:15099820 -  Homo sapiens

RGD ID: 15099820
RS ID: rs375226032
ClinVar ID: CV777983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PACS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 65,998,012
GRCh38 11 66,230,541
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033900.1:g.165189A>G
NC_000011.10:g.66230541A>G
NC_000011.9:g.65998012A>G
NM_018026.3:c.1375-7A>G
More... 		10/01/2021 intron variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PACS1
Accession:XM_011545164
Location:INTRON

Gene Symbol:PACS1
Accession:NM_018026
Location:INTRON

Gene Symbol:PACS1
Accession:XM_011545162
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000958819 CLINVAR
  RCV001580556 CLINVAR
dbSNP (RS) rs375226032 CLINVAR
MedGen C3554343 CLINVAR
  C3661900 CLINVAR
NCBI Gene PACS1 CLINVAR
OMIM 607492 CLINVAR
  615009 CLINVAR