RGD:405075976 Rat Genome Database

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Variant: RGD:405075976 -  Homo sapiens

RGD ID: 405075976
ClinVar ID: CV3156170
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC101927897  NFATC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 77,221,300
GRCh38 18 79,461,300
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_172389.3:c.1865-11C>T
NM_001278669.2:c.1904-11C>T
NM_001278670.2:c.1904-11C>T
NM_006162.5:c.1904-11C>T
More...
11/27/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LOC101927897
Accession:XR_001753515
Location:EXON;NON-CODING

Gene Symbol:NFATC1
Accession:NM_172388
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278670
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278673
Location:INTRON

Gene Symbol:NFATC1
Accession:XM_047437538
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_006162
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_172389
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_172387
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278672
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278675
Location:INTRON

Gene Symbol:NFATC1
Accession:XM_017025783
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_172390
Location:INTRON

Gene Symbol:NFATC1
Accession:NM_001278669
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003851228 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NFATC1 CLINVAR
OMIM 600489 CLINVAR