RGD:127272975 Rat Genome Database

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Variant: RGD:127272975 -  Homo sapiens

RGD ID: 127272975
RS ID: rs61757382
ClinVar ID: CV1100506
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FADD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 70,052,330
GRCh38 11 70,206,224
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.378C>T
LRG_228:g.8062C>T
NG_027966.1:g.8062C>T
NC_000011.10:g.70206224C>T
More... 		11/13/2019 synonymous variant likely 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: I to I (synonymous)
Amino Acid Position: 126
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 RCV001442386 CLINVAR
dbSNP (RS) rs61757382 CLINVAR
MedGen C3151062 CLINVAR
NCBI Gene FADD CLINVAR
OMIM 602457 CLINVAR
  613759 CLINVAR