RGD:8607966 Rat Genome Database

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Variant: RGD:8607966 -  Homo sapiens

RGD ID: 8607966
RS ID: rs1137282
ClinVar ID: CV49887
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRAS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 25,362,777
GRCh38 12 25,209,843
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.11:g.25362777A>G
NM_004985.3:c.519T>C
NP_004976.2:p.(=)
NP_004976.2:p.Asp173=
More... 		03/06/2019 3 prime utr variant|synonymous variant|utr-3 benign|likely benign AllHighlyPenetrant; none provided; 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:NM_033360
Location:3UTRS;EXON

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

Gene Symbol:KRAS
Accession:NM_004985
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQGVDDAFYTLV
REIRKHKEKMSKDGKKKKKKSKTKCVIM*

Gene Symbol:KRAS
Accession:NM_001369787
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQGVDDAFYTLV
REIRKHKEKMSKDGKKKKKKSKTKCVIM*

Gene Symbol:KRAS
Accession:XM_047428826
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLV
REIRQYRLKKISKEEKTPGCVKIKKCIIMGVDDAFYTLVREIRKHKEKMSKDGKKKKKKSKTKCVIM*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000038277 CLINVAR
  RCV000378737 CLINVAR
  RCV000522387 CLINVAR
  RCV000680290 CLINVAR
  RCV002336109 CLINVAR
dbSNP (RS) rs1137282 CLINVAR
MedGen C0028326 CLINVAR
  C3661900 CLINVAR
  C5555857 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene KRAS CLINVAR
OMIM 190070 CLINVAR
SNOMED CT 205824006 CLINVAR