RGD:126773549 Rat Genome Database

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Variant: RGD:126773549 -  Homo sapiens

RGD ID: 126773549
RS ID: rs1720851027
ClinVar ID: CV1005370
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIT  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 55,573,457
GRCh38 4 54,707,291
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.1115+4A>C
NM_001093772.2:c.1115+4A>C
NM_001385285.1:c.1115+4A>C
NM_001385286.1:c.1115+4A>C
More... 		03/17/2020 intron variant uncertain significance 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_001385288
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385292
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385284
Location:INTRON

Gene Symbol:KIT
Accession:NM_001093772
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385290
Location:INTRON

Gene Symbol:KIT
Accession:NM_000222
Location:INTRON

Gene Symbol:KIT
Accession:NM_001385285
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001324397 CLINVAR
dbSNP (RS) rs1720851027 CLINVAR
MedGen C0238198 CLINVAR
NCBI Gene KIT CLINVAR
OMIM 164920 CLINVAR
  606764 CLINVAR