RGD:11612351 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:11612351 -  Homo sapiens

RGD ID: 11612351
RS ID: rs754986111
ClinVar ID: CV323797
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 90,774,291
GRCh38 10 89,014,534
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_152871.4:c.*84G>A
NR_135315.2:n.1011G>A
NR_135314.2:n.1258G>A
LRG_134:g.29004G>A
More...
01/12/2018 3 prime utr variant 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:FAS
Accession:XM_006717819
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:NM_001320619
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:NM_000043
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:NM_152872
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:XM_011539766
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:XM_011539765
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:XM_011539764
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:XM_047425178
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:NM_001410956
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:NM_152871
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:NR_028034
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:NR_028036
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:NR_135315
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:NR_028035
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:NR_135314
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:NR_028033
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:NR_135313
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:XM_047425180
Location:INTRON

Gene Symbol:FAS
Accession:XM_047425179
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000407837 CLINVAR
dbSNP (RS) rs754986111 CLINVAR
MedGen C1328840 CLINVAR
NCBI Gene FAS CLINVAR
OMIM 134637 CLINVAR
  601859 CLINVAR