RGD:155966600 Rat Genome Database

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Variant: RGD:155966600 -  Homo sapiens

RGD ID: 155966600
ClinVar ID: CV1978135
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FADD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 70,052,221
GRCh38 11 70,206,115
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_228:g.7953C>T
NG_027966.1:g.7953C>T
NC_000011.10:g.70206115C>T
NC_000011.9:g.70052221C>T
More... 		05/03/2022 intron 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:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002616985 CLINVAR
MedGen C3151062 CLINVAR
NCBI Gene FADD CLINVAR
OMIM 602457 CLINVAR
  613759 CLINVAR