RGD:12741241 Rat Genome Database

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Variant: RGD:12741241 -  Homo sapiens

RGD ID: 12741241
RS ID: rs1057517885
ClinVar ID: CV360103
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRAS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 25,368,433
GRCh38 12 25,215,499
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007524.1:g.40422T>C
NC_000012.12:g.25215499A>G
NC_000012.11:g.25368433A>G
NM_004985.3:c.451-5588T>C
More... 		04/07/2015 intron variant uncertain significance|not provided none provided; Noonan spectrum disorder; rasopathies
Disease Annotations     Click to see Annotation Detail View
RASopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:KRAS
Accession:NM_033360
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLV
REIRQYRLKKTSKEEKTPGCVKIKKCIIM*

Gene Symbol:KRAS
Accession:NM_001369786
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLV
REIRQYRLKKTSKEEKTPGCVKIKKCIIM*

Gene Symbol:KRAS
Accession:XM_047428826
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLV
REIRQYRLKKTSKEEKTPGCVKIKKCIIMGVDDAFYTLVREIRKHKEKMSKDGKKKKKKSKTKCVIM*

Gene Symbol:KRAS
Accession:NM_004985
Location:INTRON

Gene Symbol:KRAS
Accession:NM_001369787
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000414506 CLINVAR
  RCV000509244 CLINVAR
dbSNP (RS) rs1057517885 CLINVAR
MedGen C5555857 CLINVAR
  CN517202 CLINVAR
NCBI Gene KRAS CLINVAR
OMIM 190070 CLINVAR