RGD:126923907 Rat Genome Database

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Variant: RGD:126923907 -  Homo sapiens

RGD ID: 126923907
RS ID: rs770656568
ClinVar ID: CV1048075
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 6,438,521
GRCh38 12 6,329,355
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001346091.2:c.1001G>A
NM_001065.4:c.1325G>A
NM_001346092.2:c.866G>A
LRG_193:g.17741G>A
More... 		02/18/2020 missense variant uncertain significance 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:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQWRDLGSLQPLPPRFKQFSCFSLPSSWDYSCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLM
YRYQRWKSKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYTPGDCPNFAAPRRE
VAPPYQGADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNG
RCLREAQYSMLATWRRRTPRREATLELLGRVLRDMDLLGCLEDIEEALYGPAALPPAPSLLR*

Gene Symbol:TNFRSF1A
Accession:NM_001065
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 442
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSTVPDLLLPLVLLELLVGIYPSGVIGLVPHLGDREKRDSVCPQGKYIHPQNNSICCTKCHKGTYLYNDCPGPGQDTD
CRECESGSFTASENHLRHCLSCSKCRKEMGQVEISSCTVDRDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQE
KQNTVCTCHAGFFLRENECVSCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLMYRYQRWK
SKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYTPGDCPNFAAPRREVAPPYQG
ADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQ
YSMLATWRRRTPRREATLELLGRVLRDMDLLGCLEDIEEALYGPAALPPAPSLLR*

Gene Symbol:TNFRSF1A
Accession:NM_001346091
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 334
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQVEISSCTVDRDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQEKQNTVCTCHAGFFLRENECVSCSNCKKS
LECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLMYRYQRWKSKLYSIVCGKSTPEKEGELEGTTTKPLA
PNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYTPGDCPNFAAPRREVAPPYQGADPILATALASDPIPNPLQKWEDSAHKP
QSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQYSMLATWRRRTPRREATLELLGRVLRDM
DLLGCLEDIEEALYGPAALPPAPSLLR*

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 RCV001366394 CLINVAR
dbSNP (RS) rs770656568 CLINVAR
MedGen C1275126 CLINVAR
NCBI Gene TNFRSF1A CLINVAR
OMIM 142680 CLINVAR
  191190 CLINVAR
SNOMED CT 403833009 CLINVAR