RGD:15157036 Rat Genome Database

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Variant: RGD:15157036 -  Homo sapiens

RGD ID: 15157036
RS ID: rs2233846
ClinVar ID: CV729919
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RFX5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 151,317,578
GRCh38 1 151,345,102
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001379416.1:c.233+4G>C
NM_001379420.1:c.233+4G>C
NM_001379417.1:c.233+4G>C
NM_000449.4:c.233+4G>C
More... 		10/22/2022 intron variant benign|likely benign|conflicting interpretations of pathogenicity Bare Lymphocyte Syndrome; Bare lymphocyte syndrome 2; BARE LYMPHOCYTE SYNDROME, TYPE II; BLS 2; BLS, TYPE II; none provided; SCID, HLA Class 2-Negative; SCID, HLA CLASS II-NEGATIVE; Severe combined immunodeficiency, HLA class II negative
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RFX5
Accession:NM_001379413
Location:INTRON

Gene Symbol:RFX5
Accession:NM_001379419
Location:INTRON

Gene Symbol:RFX5
Accession:NM_001379418
Location:INTRON

Gene Symbol:RFX5
Accession:NM_001379417
Location:INTRON

Gene Symbol:RFX5
Accession:NM_001379416
Location:INTRON

Gene Symbol:RFX5
Accession:XM_047426951
Location:INTRON

Gene Symbol:RFX5
Accession:NM_001025603
Location:INTRON

Gene Symbol:RFX5
Accession:XM_024448791
Location:INTRON

Gene Symbol:RFX5
Accession:NM_000449
Location:INTRON

Gene Symbol:RFX5
Accession:NM_001379415
Location:INTRON

Gene Symbol:RFX5
Accession:NM_001379420
Location:INTRON

Gene Symbol:RFX5
Accession:NM_001379414
Location:INTRON

Gene Symbol:RFX5
Accession:NM_001379412
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000880746 CLINVAR
  RCV003411875 CLINVAR
dbSNP (RS) rs2233846 CLINVAR
MedGen C2931418 CLINVAR
  C3661900 CLINVAR
NCBI Gene RFX5 CLINVAR
OMIM 209920 CLINVAR
  601863 CLINVAR