RGD:156099612 Rat Genome Database

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Variant: RGD:156099612 -  Homo sapiens

RGD ID: 156099612
ClinVar ID: CV2103092
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NFATC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 77,193,744
GRCh38 18 79,433,744
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.-31+6C>T
NM_172388.3:c.-31+6C>T
NM_001278672.2:c.1347+6C>T
NM_001278675.2:c.1347+6C>T
More... 		07/02/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NFATC1
Accession:NM_001278673
Location:5UTRS;INTRON

Gene Symbol:NFATC1
Accession:NM_172388
Location:5UTRS;INTRON

Gene Symbol:NFATC1
Accession:NM_172389
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278669
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278675
Location:INTRON

Gene Symbol:NFATC1
Accession:XM_047437538
Location:INTRON

Gene Symbol:NFATC1
Accession:XM_017025783
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278672
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_172390
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_172387
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_006162
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278670
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV002913353 CLINVAR
  RCV003926482 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NFATC1 CLINVAR
OMIM 600489 CLINVAR