RGD:15181989 Rat Genome Database

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Variant: RGD:15181989 -  Homo sapiens

RGD ID: 15181989
RS ID: rs201376917
ClinVar ID: CV724689
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FADD  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 70,049,574
GRCh38 11 70,203,468
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.9G>T
NG_027966.1:g.5306G>T
NC_000011.10:g.70203468G>T
NC_000011.9:g.70049574G>T
More... 		02/25/2019 synonymous variant benign 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: P to P (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPFLVLLHSVSSSLSSSELTELKFLCLGRVGKRKLERVQSGLDLFSMLLEQNDLEPGHTELLRELLASLRRHDLLRRVD
DFEAGAAAGAAPGEEDLCAAFNVICDNVGKDWRRLARQLKVSDTKIDSIEDRYPRNLTERVRESLRIWKNTEKENATVAH
LVGALRSCQMNLVADLVQEVQQARDLQNRSGAMSPMSWNSDASTSEAS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000885889 CLINVAR
dbSNP (RS) rs201376917 CLINVAR
MedGen C3151062 CLINVAR
NCBI Gene FADD CLINVAR
OMIM 602457 CLINVAR
  613759 CLINVAR