RGD:11610674 Rat Genome Database

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Variant: RGD:11610674 -  Homo sapiens

RGD ID: 11610674
RS ID: rs61764370
ClinVar ID: CV324191
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRAS  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 25,360,224
GRCh38 12 25,207,290
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_344t2:c.*2626T>G
NM_001369787.1:c.*2505T>G
NM_004985.5:c.*2505T>G
NM_001369786.1:c.*2626T>G
More... 		12/04/2020 3 prime utr variant benign|likely benign Noonan spectrum disorder; Noonan's syndrome; Pseudo-Turner syndrome; rasopathies
Disease Annotations     Click to see Annotation Detail View
Noonan syndrome  (IAGP)
RASopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:KRAS
Accession:XM_047428826
Location:3UTRS;EXON

Gene Symbol:KRAS
Accession:NM_004985
Location:3UTRS;EXON

Gene Symbol:KRAS
Accession:NM_033360
Location:3UTRS;EXON

Gene Symbol:KRAS
Accession:NM_001369787
Location:3UTRS;EXON

Gene Symbol:KRAS
Accession:NM_001369786
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:18922928   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000384527 CLINVAR
  RCV001511520 CLINVAR
  RCV001813459 CLINVAR
dbSNP (RS) rs61764370 CLINVAR
MedGen C0028326 CLINVAR
  C5555857 CLINVAR
  C5681679 CLINVAR
NCBI Gene KRAS CLINVAR
OMIM 190070 CLINVAR
SNOMED CT 205824006 CLINVAR