RGD:11591137 Rat Genome Database

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Variant: RGD:11591137 -  Homo sapiens

RGD ID: 11591137
RS ID: rs376317481
ClinVar ID: CV278528
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FASLG  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 172,635,059
GRCh38 1 172,665,919
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.11875A>T
NG_007269.1:g.11875A>T
NC_000001.11:g.172665919A>T
NC_000001.10:g.172635059A>T
More... 		09/19/2018 3 prime utr variant 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_001302746
Location:3UTRS;EXON

Gene Symbol:FASLG
Accession:NM_000639
Location:EXON
Amino Acid Prediction: N to I (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQQPFNYPYPQIYWVDSSASSPWAPPGTVLPCPTSVPRRPGQRRPPPPPPPPPLPPPPPPPPLPPLPLPPLKKRGNHSTG
LCLLVMFFMVLVALVGLGLGMFQLFHLQKELAELRESTSQMHTASSLEKQIGHPSPPPEKKELRKVAHLTGKSNSRSMPL
EWEDTYGIVLLSGVKYKKGGLVINETGLYFVYSKVYFRGQSCNNLPLSHKVYMRNSKYPQDLVMMEGKMMSYCTTGQMWA
RSSYLGAVFILTSADHLYVNVSELSLVNFEESQTFFGLYKL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000326288 CLINVAR
  RCV003243055 CLINVAR
dbSNP (RS) rs376317481 CLINVAR
MedGen C0950123 CLINVAR
  C1328840 CLINVAR
NCBI Gene FASLG CLINVAR
OMIM 134638 CLINVAR
  601859 CLINVAR