RGD:152080707 Rat Genome Database

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Variant: RGD:152080707 -  Homo sapiens

RGD ID: 152080707
RS ID: rs746130769
ClinVar ID: CV1589297
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIT  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 55,594,303
GRCh38 4 54,728,137
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001093772.2:c.1978+16A>G
NM_001385288.1:c.1981+16A>G
NM_000222.3:c.1990+16A>G
NM_001385285.1:c.1990+16A>G
More... 		12/06/2021 intron variant likely benign Gastrointestinal stroma tumor; Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic
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_001385286
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385285
Location:INTRON

Gene Symbol:KIT
Accession:NM_001093772
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_001385284
Location:INTRON

Gene Symbol:KIT
Accession:NM_000222
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002112713 CLINVAR
dbSNP (RS) rs746130769 CLINVAR
MedGen C0238198 CLINVAR
NCBI Gene KIT CLINVAR
OMIM 164920 CLINVAR
  606764 CLINVAR