RGD:405250554 Rat Genome Database

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Variant: RGD:405250554 -  Homo sapiens

RGD ID: 405250554
ClinVar ID: CV3052954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NFATC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 77,170,437
GRCh38 18 79,410,437
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_172388.3:c.-191+14086C>T
NM_001278673.2:c.-191+9958C>T
NM_001278672.2:c.123C>T
NM_001278675.2:c.123C>T
More...
10/13/2023 intron variant likely benign none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003721652 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NFATC1 CLINVAR
OMIM 600489 CLINVAR