RGD:152025887 Rat Genome Database

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Variant: RGD:152025887 -  Homo sapiens

RGD ID: 152025887
RS ID: rs1948006524
ClinVar ID: CV1666090
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF1A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 6,438,793
GRCh38 12 6,329,627
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001065.4:c.1058-5C>G
NM_001346092.2:c.599-5C>G
NM_001346091.2:c.734-5C>G
LRG_193:g.17469C>G
More... 		10/07/2021 intron variant likely benign Autosomal Dominant Familial Periodic Fever; Familial Hibernian fever; TNF receptor-associated periodic syndrome; Tumor necrosis factor receptor-associated periodic syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TNFRSF1A
Accession:NM_001065
Location:INTRON

Gene Symbol:TNFRSF1A
Accession:NM_001346092
Location:INTRON

Gene Symbol:TNFRSF1A
Accession:NM_001346091
Location:INTRON

Gene Symbol:TNFRSF1A
Accession:NR_144351
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002084616 CLINVAR
dbSNP (RS) rs1948006524 CLINVAR
MedGen C1275126 CLINVAR
NCBI Gene TNFRSF1A CLINVAR
OMIM 142680 CLINVAR
  191190 CLINVAR
SNOMED CT 403833009 CLINVAR