RGD:15109334 Rat Genome Database

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Variant: RGD:15109334 -  Homo sapiens

RGD ID: 15109334
RS ID: rs746854752
ClinVar ID: CV730016
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NFIA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 61,872,224
GRCh38 1 61,406,552
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145511.2:c.1231-10C>T
NM_001134673.4:c.1255-10C>T
NM_005595.5:c.1255-10C>T
NM_001145512.2:c.1390-10C>T
More... 		12/22/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NFIA
Accession:NM_001145512
Location:INTRON

Gene Symbol:NFIA
Accession:NM_001145511
Location:INTRON

Gene Symbol:NFIA
Accession:NM_005595
Location:INTRON

Gene Symbol:NFIA
Accession:NM_001134673
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000893844 CLINVAR
dbSNP (RS) rs746854752 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NFIA CLINVAR
OMIM 600727 CLINVAR