RGD:8644227 Rat Genome Database

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Variant: RGD:8644227 -  Homo sapiens

RGD ID: 8644227
RS ID: rs104895294
ClinVar ID: CV103575
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF1A  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 6,442,941
GRCh38 12 6,333,775
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NR_144351.2:n.546A>T
LRG_193:g.13321A>T
NG_007506.1:g.13321A>T
NC_000012.12:g.6333775T>A
More... 		5 prime utr variant|missense|missense variant 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

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: H to L (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSTVPDLLLPLVLLELLVGIYPSGVIGLVPHLGDREKRDSVCPQGKYIHPQNNSICCTKCHKGTYLYNDCPGPGQDTD
CRECESGSFTASENLLRHCLSCSKCRKEMGQVEISSCTVDRDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQE
KQNTVCTCHAGFFLRENECVSCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLMYRYQRWK
SKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYTPGDCPNFAAPRREVAPPYQG
ADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQ
YSMLATWRRRTPRREATLELLGRVLRDMDLLGCLEDIEEALCGPAALPPAPSLLR*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000083936 CLINVAR
dbSNP (RS) rs104895294 CLINVAR
MedGen C1275126 CLINVAR
NCBI Gene TNFRSF1A CLINVAR
OMIM 142680 CLINVAR
  191190 CLINVAR
SNOMED CT 403833009 CLINVAR