RGD:15149891 Rat Genome Database

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Variant: RGD:15149891 -  Homo sapiens

RGD ID: 15149891
RS ID: rs373076345
ClinVar ID: CV759986
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIT  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 120,210,564
GRCh38 12 119,772,760
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001206999.2:c.2082+10G>C
NM_007174.3:c.2082+10G>C
NG_029792.1:g.109532G>C
NC_000012.12:g.119772760C>G
More... 		03/30/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CIT
Accession:NM_007174
Location:INTRON

Gene Symbol:CIT
Accession:NM_001206999
Location:INTRON

Gene Symbol:CIT
Accession:XM_006719206
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537788
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537787
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537785
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537784
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537783
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537790
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537789
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537791
Location:INTRON

Gene Symbol:CIT
Accession:XM_017018737
Location:INTRON

Gene Symbol:CIT
Accession:XM_017018736
Location:INTRON

Gene Symbol:CIT
Accession:XM_017018735
Location:INTRON

Gene Symbol:CIT
Accession:XM_047428134
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000923371 CLINVAR
  RCV003903027 CLINVAR
dbSNP (RS) rs373076345 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CIT CLINVAR
OMIM 605629 CLINVAR