RGD:8644212 Rat Genome Database

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Variant: RGD:8644212 -  Homo sapiens

RGD ID: 8644212
RS ID: rs104895232
ClinVar ID: CV103560
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF1A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 6,442,984
GRCh38 12 6,333,818
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.241T>C
LRG_193:g.13278T>C
NG_007506.1:g.13278T>C
NC_000012.12:g.6333818A>G
More... 		08/03/2018 5 prime utr variant|missense|missense variant likely pathogenic|not provided adolescent|childhood|infancy 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_001346092
Location:5UTRS;EXON

Gene Symbol:TNFRSF1A
Accession:NM_001346091
Location:5UTRS;EXON

Gene Symbol:TNFRSF1A
Accession:NM_001065
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSTVPDLLLPLVLLELLVGIYPSGVIGLVPHLGDREKRDSVCPQGKYIHPQNNSICCTKCHKGTYLYNDCPGPGQDTD
RRECESGSFTASENHLRHCLSCSKCRKEMGQVEISSCTVDRDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQE
KQNTVCTCHAGFFLRENECVSCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLMYRYQRWK
SKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYTPGDCPNFAAPRREVAPPYQG
ADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQ
YSMLATWRRRTPRREATLELLGRVLRDMDLLGCLEDIEEALCGPAALPPAPSLLR*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000083921 CLINVAR
dbSNP (RS) rs104895232 CLINVAR
MedGen C1275126 CLINVAR
NCBI Gene TNFRSF1A CLINVAR
OMIM 142680 CLINVAR
  191190 CLINVAR
SNOMED CT 403833009 CLINVAR