RGD:28883186 Rat Genome Database

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Variant: RGD:28883186 -  Homo sapiens

RGD ID: 28883186
RS ID: rs17843866
ClinVar ID: CV864988
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 154,570,873
GRCh38 1 154,598,397
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1212t1:c.1785+5G>A
NC_000001.11:g.154598397C>T
NM_001111.5:c.1785+5G>A
NM_015840.4:c.1785+5G>A
More... 		04/21/2020 intron variant benign|uncertain significance Aicardi-Goutieres syndrome 6; Dyschromatosis symmetrica hereditaria; Dyschromatosis symmetrica hereditaria 1; Familial reticulate acropigmentation of Dohi; Reticulate acropigmentation of Dohi; Symmetric dyschromatosis of the extremities
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ADAR
Accession:NM_015841
Location:INTRON

Gene Symbol:ADAR
Accession:NM_001193495
Location:INTRON

Gene Symbol:ADAR
Accession:NM_001365046
Location:INTRON

Gene Symbol:ADAR
Accession:XM_047428340
Location:INTRON

Gene Symbol:ADAR
Accession:XM_047428386
Location:INTRON

Gene Symbol:ADAR
Accession:NM_001365045
Location:INTRON

Gene Symbol:ADAR
Accession:NM_001025107
Location:INTRON

Gene Symbol:ADAR
Accession:XM_011509061
Location:INTRON

Gene Symbol:ADAR
Accession:NM_015840
Location:INTRON

Gene Symbol:ADAR
Accession:XM_011509062
Location:INTRON

Gene Symbol:ADAR
Accession:NM_001365049
Location:INTRON

Gene Symbol:ADAR
Accession:NM_001365048
Location:INTRON

Gene Symbol:ADAR
Accession:XM_047428405
Location:INTRON

Gene Symbol:ADAR
Accession:NM_001365047
Location:INTRON

Gene Symbol:ADAR
Accession:XM_047428441
Location:INTRON

Gene Symbol:ADAR
Accession:NM_001111
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001097414 CLINVAR
  RCV001340477 CLINVAR
dbSNP (RS) rs17843866 CLINVAR
MedGen C0406775 CLINVAR
NCBI Gene ADAR CLINVAR
OMIM 127400 CLINVAR
  146920 CLINVAR
  615010 CLINVAR
SNOMED CT 239085000 CLINVAR