RGD:152151272 Rat Genome Database

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Variant: RGD:152151272 -  Homo sapiens

RGD ID: 152151272
RS ID: rs769937767
ClinVar ID: CV1631329
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINI1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 167,507,180
GRCh38 3 167,789,392
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001122752.2:c.250+14G>C
NM_005025.5:c.250+14G>C
NG_008217.1:g.58749G>C
NC_000003.12:g.167789392G>C
More... 		11/01/2021 intron variant likely benign Encephalopathy, familial, with Collins bodies
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERPINI1
Accession:NM_001122752
Location:INTRON

Gene Symbol:SERPINI1
Accession:XM_017006618
Location:INTRON

Gene Symbol:SERPINI1
Accession:NM_005025
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002179487 CLINVAR
dbSNP (RS) rs769937767 CLINVAR
MedGen C1858680 CLINVAR
NCBI Gene SERPINI1 CLINVAR
OMIM 602445 CLINVAR
  604218 CLINVAR