RGD:8644215 Rat Genome Database

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Variant: RGD:8644215 -  Homo sapiens

RGD ID: 8644215
RS ID: rs104895265
ClinVar ID: CV103563
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 6,442,976
GRCh38 12 6,333,810
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_193t1:c.249G>A
LRG_193:g.13286G>A
NG_007506.1:g.13286G>A
NC_000012.12:g.6333810C>T
More... 		10/10/2020 5 prime utr variant|synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided adolescent|childhood|infancy Autosomal Dominant Familial Periodic Fever; Familial Hibernian fever; none provided; 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_001346091
Location:5UTRS;EXON

Gene Symbol:TNFRSF1A
Accession:NM_001346092
Location:5UTRS;EXON

Gene Symbol:TNFRSF1A
Accession:NM_001065
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSTVPDLLLPLVLLELLVGIYPSGVIGLVPHLGDREKRDSVCPQGKYIHPQNNSICCTKCHKGTYLYNDCPGPGQDTD
CRECESGSFTASENHLRHCLSCSKCRKEMGQVEISSCTVDRDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQE
KQNTVCTCHAGFFLRENECVSCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLMYRYQRWK
SKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYTPGDCPNFAAPRREVAPPYQG
ADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQ
YSMLATWRRRTPRREATLELLGRVLRDMDLLGCLEDIEEALCGPAALPPAPSLLR*

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000083924 CLINVAR
  RCV001310985 CLINVAR
  RCV002262669 CLINVAR
  RCV003905077 CLINVAR
dbSNP (RS) rs104895265 CLINVAR
MedGen C1275126 CLINVAR
  C3661900 CLINVAR
  C3890737 CLINVAR
NCBI Gene TNFRSF1A CLINVAR
OMIM 142680 CLINVAR
  191190 CLINVAR
SNOMED CT 403833009 CLINVAR