RGD:38464423 Rat Genome Database

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Variant: RGD:38464423 -  Homo sapiens

RGD ID: 38464423
RS ID: rs149883274
ClinVar ID: CV930169
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FASLG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 172,628,511
GRCh38 1 172,659,371
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001302746.2:c.170C>T
NM_000639.3:c.170C>T
LRG_58:g.5327C>T
NG_007269.1:g.5327C>T
More... 		10/19/2019 missense variant uncertain significance 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: P to L (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQQPFNYPYPQIYWVDSSASSPWAPPGTVLPCPTSVPRRPGQRRPPPPPPPPPLPPLPPPPPLPPLPLPPLKKRGNHSTG
LCLLVMFFMVLVALVGLGLGMFQLFHLQKELAELRESTSQMHTASSLEKQIGHPSPPPEKKELRKVAHLTGKSNSRSMPL
EWEDTYGIVLLSGVKYKKGGLVINETGLYFVYSKVYFRGQSCNNLPLSHKVYMRNSKYPQDLVMMEGKMMSYCTTGQMWA
RSSYLGAVFNLTSADHLYVNVSELSLVNFEESQTFFGLYKL*

Gene Symbol:FASLG
Accession:NM_001302746
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQQPFNYPYPQIYWVDSSASSPWAPPGTVLPCPTSVPRRPGQRRPPPPPPPPPLPPLPPPPPLPPLPLPPLKKRGNHSTG
LCLLVMFFMVLVALVGLGLGMFQLFHLQKELAELREATPVHPLKKRS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001212483 CLINVAR
dbSNP (RS) rs149883274 CLINVAR
MedGen C1328840 CLINVAR
NCBI Gene FASLG CLINVAR
OMIM 134638 CLINVAR
  601859 CLINVAR