RGD:156369914 Rat Genome Database

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Variant: RGD:156369914 -  Homo sapiens

RGD ID: 156369914
ClinVar ID: CV2109674
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FADD  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 70,052,493
GRCh38 11 70,206,387
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_228:g.8225C>G
NG_027966.1:g.8225C>G
NC_000011.10:g.70206387C>G
NC_000011.9:g.70052493C>G
More... 		08/05/2022 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: Q to E (nonsynonymous)
Amino Acid Position: 181
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPFLVLLHSVSSSLSSSELTELKFLCLGRVGKRKLERVQSGLDLFSMLLEQNDLEPGHTELLRELLASLRRHDLLRRVD
DFEAGAAAGAAPGEEDLCAAFNVICDNVGKDWRRLARQLKVSDTKIDSIEDRYPRNLTERVRESLRIWKNTEKENATVAH
LVGALRSCQMNLVADLVQEVEQARDLQNRSGAMSPMSWNSDASTSEAS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002942243 CLINVAR
MedGen C3151062 CLINVAR
NCBI Gene FADD CLINVAR
OMIM 602457 CLINVAR
  613759 CLINVAR