RGD:11586757 Rat Genome Database

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Variant: RGD:11586757 -  Homo sapiens

RGD ID: 11586757
RS ID: rs2213181
ClinVar ID: CV295032
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 55,604,872
GRCh38 4 54,738,706
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_307t1:c.*149C>T
LRG_307:g.85712C>T
NG_007456.1:g.85712C>T
NC_000004.12:g.54738706C>T
More... 		06/22/2018 3 prime utr variant benign|likely benign adolescent|all ages|infancy 1-5 / 10 000|1-9 / 100 000 Gastrointestinal stroma tumor; Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Mast cell disease; none provided; Piebald skin depigmentation
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KIT
Accession:NM_001093772
Location:3UTRS;EXON

Gene Symbol:KIT
Accession:NM_001385288
Location:3UTRS;EXON

Gene Symbol:KIT
Accession:NM_000222
Location:3UTRS;EXON

Gene Symbol:KIT
Accession:NM_001385290
Location:3UTRS;EXON

Gene Symbol:KIT
Accession:NM_001385285
Location:3UTRS;EXON

Gene Symbol:KIT
Accession:NM_001385286
Location:3UTRS;EXON

Gene Symbol:KIT
Accession:NM_001385284
Location:3UTRS;EXON

Gene Symbol:KIT
Accession:NM_001385292
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000289933 CLINVAR
  RCV000349682 CLINVAR
  RCV000385510 CLINVAR
  RCV001712138 CLINVAR
dbSNP (RS) rs2213181 CLINVAR
MedGen C0024899 CLINVAR
  C0080024 CLINVAR
  C0238198 CLINVAR
  C3661900 CLINVAR
NCBI Gene KIT CLINVAR
OMIM 164920 CLINVAR
  172800 CLINVAR
  606764 CLINVAR