RGD:11593532 Rat Genome Database

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Variant: RGD:11593532 -  Homo sapiens

RGD ID: 11593532
RS ID: rs559398617
ClinVar ID: CV276742
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 154,554,696
GRCh38 1 154,582,220
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000001.11:g.154582220G>A
NC_000001.10:g.154554696G>A
NM_001111.5:c.*2586C>T
NG_011844.2:g.54341C>T
More... 		06/14/2016 3 prime utr variant uncertain significance childhood 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:3UTRS;EXON

Gene Symbol:ADAR
Accession:XM_047428441
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:XM_047428405
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:NM_001365048
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:NM_015840
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:NM_001365047
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:NM_001365049
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:XM_011509061
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:NM_001111
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:XM_047428340
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:NM_001365045
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:NM_001025107
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:NM_001365046
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:NM_001193495
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:XM_011509062
Location:3UTRS;EXON

Gene Symbol:ADAR
Accession:XM_047428386
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000349948 CLINVAR
dbSNP (RS) rs559398617 CLINVAR
MedGen C0406775 CLINVAR
NCBI Gene ADAR CLINVAR
OMIM 127400 CLINVAR
  146920 CLINVAR
SNOMED CT 239085000 CLINVAR