RGD:28901557 Rat Genome Database

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Variant: RGD:28901557 -  Homo sapiens

RGD ID: 28901557
RS ID: rs558072404
ClinVar ID: CV868530
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTA2  FAS  LOC127818729  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 90,750,675
GRCh38 10 88,990,918
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001320619.2:c.30+12C>T
NM_152871.4:c.30+12C>T
NM_152872.4:c.30+12C>T
LRG_134:g.5388C>T
More... 		09/27/2022 5 prime utr variant|intron variant benign 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:NM_001410956
Location:5UTRS;EXON

Gene Symbol:ACTA2
Accession:NM_001406463
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001406471
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001406468
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001320855
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001406467
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001141945
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001406462
Location:5UTRS;INTRON

Gene Symbol:FAS
Accession:NM_001320619
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406464
Location:INTRON

Gene Symbol:FAS
Accession:XM_047425180
Location:INTRON

Gene Symbol:FAS
Accession:NM_152871
Location:INTRON

Gene Symbol:FAS
Accession:NM_000043
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001613
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FAS
Accession:XM_047425179
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406466
Location:INTRON

Gene Symbol:FAS
Accession:XM_011539764
Location:INTRON

Gene Symbol:FAS
Accession:XM_011539766
Location:INTRON

Gene Symbol:FAS
Accession:XM_011539765
Location:INTRON

Gene Symbol:FAS
Accession:XM_047425178
Location:INTRON

Gene Symbol:FAS
Accession:NM_152872
Location:INTRON

Gene Symbol:FAS
Accession:XM_006717819
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406469
Location:INTRON

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

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001104315 CLINVAR
dbSNP (RS) rs558072404 CLINVAR
MedGen C1328840 CLINVAR
NCBI Gene ACTA2 CLINVAR
  FAS CLINVAR
OMIM 102620 CLINVAR
  134637 CLINVAR
  601859 CLINVAR