RGD:15134650 Rat Genome Database

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Variant: RGD:15134650 -  Homo sapiens

RGD ID: 15134650
RS ID: rs201427841
ClinVar ID: CV745202
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NFATC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 77,208,992
GRCh38 18 79,448,992
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278673.2:c.173+8G>A
NM_001278672.2:c.1550+8G>A
NM_001278675.2:c.1550+8G>A
NM_172387.3:c.1550+8G>A
More... 		12/27/2019 intron variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NFATC1
Accession:NM_006162
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_172388
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_172390
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_172387
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_172389
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278669
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278670
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278672
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278675
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278673
Location:INTRON

Gene Symbol:NFATC1
Accession:XM_017025783
Location:INTRON

Gene Symbol:NFATC1
Accession:XM_047437538
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000898327 CLINVAR
  RCV003920861 CLINVAR
dbSNP (RS) rs201427841 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NFATC1 CLINVAR
OMIM 600489 CLINVAR