RGD:11596296 Rat Genome Database

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Variant: RGD:11596296 -  Homo sapiens

RGD ID: 11596296
RS ID: rs775421228
ClinVar ID: CV278530
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FASLG  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 172,635,188
GRCh38 1 172,666,048
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.12004T>C
NG_007269.1:g.12004T>C
NC_000001.11:g.172666048T>C
NC_000001.10:g.172635188T>C
More... 		01/13/2018 3 prime utr variant likely benign|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:3UTRS;EXON

Gene Symbol:FASLG
Accession:NM_001302746
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000380723 CLINVAR
dbSNP (RS) rs775421228 CLINVAR
MedGen C1328840 CLINVAR
NCBI Gene FASLG CLINVAR
OMIM 134638 CLINVAR
  601859 CLINVAR