RGD:26920923 Rat Genome Database

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Variant: RGD:26920923 -  Homo sapiens

RGD ID: 26920923
RS ID: rs781283523
ClinVar ID: CV851608
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIT  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 55,597,489
GRCh38 4 54,731,323
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001385292.1:c.2133-8C>G
NM_001385290.1:c.2145-8C>G
NM_001385284.1:c.2145-5C>G
NG_007456.1:g.78329C>G
More... 		07/12/2022 intron variant likely benign|uncertain significance Cancer predisposition; Gastrointestinal stroma tumor; Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
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_000222
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385288
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385292
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385290
Location:INTRON

Gene Symbol:KIT
Accession:NM_001093772
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385284
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385285
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385286
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001060483 CLINVAR
  RCV002429686 CLINVAR
dbSNP (RS) rs781283523 CLINVAR
MedGen C0027672 CLINVAR
  C0238198 CLINVAR
NCBI Gene KIT CLINVAR
OMIM 164920 CLINVAR
  606764 CLINVAR
SNOMED CT 699346009 CLINVAR