RGD:127303174 Rat Genome Database

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Variant: RGD:127303174 -  Homo sapiens

RGD ID: 127303174
RS ID: rs773900198
ClinVar ID: CV1113746
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINI1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 167,510,372
GRCh38 3 167,792,584
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.482-6A>C
NM_005025.5:c.482-6A>C
NG_008217.1:g.61941A>C
NC_000003.12:g.167792584A>C
More...
06/18/2020 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:NM_005025
Location:INTRON

Gene Symbol:SERPINI1
Accession:XM_017006618
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001454650 CLINVAR
dbSNP (RS) rs773900198 CLINVAR
MedGen C1858680 CLINVAR
NCBI Gene SERPINI1 CLINVAR
OMIM 602445 CLINVAR
  604218 CLINVAR