RGD:28901554 Rat Genome Database

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Variant: RGD:28901554 -  Homo sapiens

RGD ID: 28901554
RS ID: rs1847139427
ClinVar ID: CV868529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTA2  FAS  LOC127818729  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 90,750,669
GRCh38 10 88,990,912
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_134t1:c.30+6C>T
NM_000043.6:c.30+6C>T
NM_001320619.2:c.30+6C>T
NM_152871.4:c.30+6C>T
More... 		01/12/2018 intron 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:ACTA2
Accession:NM_001320855
Location:5UTRS;INTRON

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

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

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

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

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

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

Gene Symbol:FAS
Accession:XM_006717819
Location:INTRON

Gene Symbol:FAS
Accession:XM_047425179
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406464
Location:INTRON

Gene Symbol:FAS
Accession:NM_000043
Location:INTRON

Gene Symbol:FAS
Accession:XM_011539765
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406469
Location:INTRON

Gene Symbol:FAS
Accession:XM_011539766
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FAS
Accession:XM_011539764
Location:INTRON

Gene Symbol:FAS
Accession:XM_047425178
Location:INTRON

Gene Symbol:FAS
Accession:NM_152871
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406466
Location:INTRON

Gene Symbol:FAS
Accession:XM_047425180
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001613
Location:INTRON

Gene Symbol:FAS
Accession:NM_001410956
Location:INTRON

Gene Symbol:FAS
Accession:NM_152872
Location:INTRON

Gene Symbol:FAS
Accession:NM_001320619
Location:INTRON

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001104314 CLINVAR
dbSNP (RS) rs1847139427 CLINVAR
MedGen C1328840 CLINVAR
NCBI Gene ACTA2 CLINVAR
  FAS CLINVAR
OMIM 102620 CLINVAR
  134637 CLINVAR
  601859 CLINVAR