RGD:8598985 Rat Genome Database

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Variant: RGD:8598985 -  Homo sapiens

RGD ID: 8598985
RS ID: rs104895228
ClinVar ID: CV27384
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF1A  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 6,442,930
GRCh38 12 6,333,764
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_193:g.13332T>A
NG_007506.1:g.13332T>A
NC_000012.12:g.6333764A>T
NC_000012.11:g.6442930A>T
More... 		12/12/2013 5 prime utr variant|missense|missense variant pathogenic 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_001346091
Location:5UTRS;EXON

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

Gene Symbol:TNFRSF1A
Accession:NM_001065
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSTVPDLLLPLVLLELLVGIYPSGVIGLVPHLGDREKRDSVCPQGKYIHPQNNSICCTKCHKGTYLYNDCPGPGQDTD
CRECESGSFTASENHLRHSLSCSKCRKEMGQVEISSCTVDRDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQE
KQNTVCTCHAGFFLRENECVSCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLMYRYQRWK
SKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYTPGDCPNFAAPRREVAPPYQG
ADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQ
YSMLATWRRRTPRREATLELLGRVLRDMDLLGCLEDIEEALCGPAALPPAPSLLR*

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

Variant Samples
Additional References at PubMed
PMID:13130484   PMID:14610673  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000013138 CLINVAR
dbSNP (RS) rs104895228 CLINVAR
MedGen C1275126 CLINVAR
NCBI Gene TNFRSF1A CLINVAR
OMIM 142680 CLINVAR
  191190 CLINVAR
OMIM Allele 191190.0011 CLINVAR
SNOMED CT 403833009 CLINVAR