RGD:13613241 Rat Genome Database

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Variant: RGD:13613241 -  Homo sapiens

RGD ID: 13613241
RS ID: rs1555107565
ClinVar ID: CV514272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF1A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 6,439,853
GRCh38 12 6,330,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001346092.2:c.191T>C
NM_001346091.2:c.326T>C
NP_001333020.1:p.Val109Ala
NP_001333021.1:p.Val64Ala
More... 		01/09/2018 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: V to A (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQWRDLGSLQPLPPRFKQFSCFSLPSSWDYSCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLAIFFGLCLLSLLFIGLM
YRYQRWKSKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYTPGDCPNFAAPRRE
VAPPYQGADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNG
RCLREAQYSMLATWRRRTPRREATLELLGRVLRDMDLLGCLEDIEEALCGPAALPPAPSLLR*

Gene Symbol:TNFRSF1A
Accession:NM_001346091
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQVEISSCTVDRDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQEKQNTVCTCHAGFFLRENECVSCSNCKKS
LECTKLCLPQIENVKGTEDSGTTVLLPLAIFFGLCLLSLLFIGLMYRYQRWKSKLYSIVCGKSTPEKEGELEGTTTKPLA
PNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYTPGDCPNFAAPRREVAPPYQGADPILATALASDPIPNPLQKWEDSAHKP
QSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQYSMLATWRRRTPRREATLELLGRVLRDM
DLLGCLEDIEEALCGPAALPPAPSLLR*

Gene Symbol:TNFRSF1A
Accession:NM_001065
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSTVPDLLLPLVLLELLVGIYPSGVIGLVPHLGDREKRDSVCPQGKYIHPQNNSICCTKCHKGTYLYNDCPGPGQDTD
CRECESGSFTASENHLRHCLSCSKCRKEMGQVEISSCTVDRDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQE
KQNTVCTCHAGFFLRENECVSCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLAIFFGLCLLSLLFIGLMYRYQRWK
SKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYTPGDCPNFAAPRREVAPPYQG
ADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQ
YSMLATWRRRTPRREATLELLGRVLRDMDLLGCLEDIEEALCGPAALPPAPSLLR*

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000627060 CLINVAR
dbSNP (RS) rs1555107565 CLINVAR
MedGen C1275126 CLINVAR
NCBI Gene TNFRSF1A CLINVAR
OMIM 142680 CLINVAR
  191190 CLINVAR
SNOMED CT 403833009 CLINVAR