RGD:13621396 Rat Genome Database

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Variant: RGD:13621396 -  Homo sapiens

RGD ID: 13621396
RS ID: rs920471641
ClinVar ID: CV534489
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130067574  TNFRSF13C  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 42,322,646
GRCh38 22 41,926,642
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_184t1:c.132A>G
LRG_184:g.5176A>G
NG_007579.1:g.5176A>G
NC_000022.11:g.41926642T>C
More... 		09/27/2017 synonymous variant likely benign ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TNFRSF13C
Accession:NM_052945
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRGPRSLRGRDAPAPTPCVPAECFDLLVRHCVACGLLRTPRPKPAGASSPAPRTALQPQESVGAGAGEAALPLPGLLFG
APALLGLALVLALVLVGLVSWRRRQRRLRGASSAEAPDGDKDAPEPLDKVIILSPGISDATAPAWPPPGEDPGTTPPGHS
VPVPATELGSTELVTTKTAGPEQQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000648329 CLINVAR
dbSNP (RS) rs920471641 CLINVAR
MedGen C3150739 CLINVAR
NCBI Gene LOC130067574 CLINVAR
  TNFRSF13C CLINVAR
OMIM 606269 CLINVAR
  613494 CLINVAR