RGD:127278100 Rat Genome Database

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Variant: RGD:127278100 -  Homo sapiens

RGD ID: 127278100
RS ID: rs377340910
ClinVar ID: CV1093372
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 55,524,257
GRCh38 4 54,658,090
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000222.3:c.67+9C>T
NM_001093772.2:c.67+9C>T
NM_001385284.1:c.67+9C>T
NM_001385285.1:c.67+9C>T
More... 		06/15/2020 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_001385290
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385292
Location:INTRON

Gene Symbol:KIT
Accession:NM_000222
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385288
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 RCV001444806 CLINVAR
dbSNP (RS) rs377340910 CLINVAR
MedGen C0238198 CLINVAR
NCBI Gene KIT CLINVAR
OMIM 164920 CLINVAR
  606764 CLINVAR