RGD:126742106 Rat Genome Database

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Variant: RGD:126742106 -  Homo sapiens

RGD ID: 126742106
RS ID: rs767771723
ClinVar ID: CV994766
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FADD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 70,052,418
GRCh38 11 70,206,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003824.4:c.466G>A
LRG_228:g.8150G>A
NG_027966.1:g.8150G>A
NC_000011.9:g.70052418G>A
More... 		08/30/2020 missense variant uncertain significance FADD DEFICIENCY; Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FADD
Accession:NM_003824
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPFLVLLHSVSSSLSSSELTELKFLCLGRVGKRKLERVQSGLDLFSMLLEQNDLEPGHTELLRELLASLRRHDLLRRVD
DFEAGAAAGAAPGEEDLCAAFNVICDNVGKDWRRLARQLKVSDTKIDSIEDRYPRNLTERVRESLRIWKNTEKENTTVAH
LVGALRSCQMNLVADLVQEVQQARDLQNRSGAMSPMSWNSDASTSEAS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001305512 CLINVAR
dbSNP (RS) rs767771723 CLINVAR
MedGen C3151062 CLINVAR
NCBI Gene FADD CLINVAR
OMIM 602457 CLINVAR
  613759 CLINVAR