RGD:11581104 Rat Genome Database

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Variant: RGD:11581104 -  Homo sapiens

RGD ID: 11581104
RS ID: rs758796005
ClinVar ID: CV278525
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FASLG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 172,628,619
GRCh38 1 172,659,479
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_58:g.5435C>T
NG_007269.1:g.5435C>T
NC_000001.11:g.172659479C>T
NC_000001.10:g.172628619C>T
More... 		12/06/2018 missense variant conflicting interpretations of pathogenicity|uncertain significance all ages Autoimmune lymphoproliferative syndrome type 1, autosomal dominant; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FASLG
Accession:NM_000639
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQQPFNYPYPQIYWVDSSASSPWAPPGTVLPCPTSVPRRPGQRRPPPPPPPPPLPPPPPPPPLPPLPLPPLKKRGNHSTG
LCLLVMFFMVLVVLVGLGLGMFQLFHLQKELAELRESTSQMHTASSLEKQIGHPSPPPEKKELRKVAHLTGKSNSRSMPL
EWEDTYGIVLLSGVKYKKGGLVINETGLYFVYSKVYFRGQSCNNLPLSHKVYMRNSKYPQDLVMMEGKMMSYCTTGQMWA
RSSYLGAVFNLTSADHLYVNVSELSLVNFEESQTFFGLYKL*

Gene Symbol:FASLG
Accession:NM_001302746
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQQPFNYPYPQIYWVDSSASSPWAPPGTVLPCPTSVPRRPGQRRPPPPPPPPPLPPPPPPPPLPPLPLPPLKKRGNHSTG
LCLLVMFFMVLVVLVGLGLGMFQLFHLQKELAELREATPVHPLKKRS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000356098 CLINVAR
dbSNP (RS) rs758796005 CLINVAR
MedGen C1328840 CLINVAR
NCBI Gene FASLG CLINVAR
OMIM 134638 CLINVAR
  601859 CLINVAR