RGD:12836560 Rat Genome Database

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Variant: RGD:12836560 -  Homo sapiens

RGD ID: 12836560
RS ID: rs1057519725
ClinVar ID: CV362841
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRAS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 25,378,561
GRCh38 12 25,225,627
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_344t1:c.437C>T
NC_000012.12:g.25225627G>A
NC_000012.11:g.25378561G>A
NP_004976.2:p.Ala146Val
More... 		11/14/2023 missense variant pathogenic|uncertain significance|not provided Bladder cancer; Colorectal neoplasm; Colorectal Neoplasms; Neoplasm of the thyroid gland; Non-small cell lung cancer; none provided; Noonan spectrum disorder; rasopathies; Urinary bladder cancer; Urinary Bladder Neoplasms
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KRAS
Accession:NM_033360
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSVKTRQRVEDAFYTLV
REIRQYRLKKISKEEKTPGCVKIKKCIIM*

Gene Symbol:KRAS
Accession:XM_047428826
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSVKTRQRVEDAFYTLV
REIRQYRLKKISKEEKTPGCVKIKKCIIMGVDDAFYTLVREIRKHKEKMSKDGKKKKKKSKTKCVIM*

Gene Symbol:KRAS
Accession:NM_001369787
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSVKTRQGVDDAFYTLV
REIRKHKEKMSKDGKKKKKKSKTKCVIM*

Gene Symbol:KRAS
Accession:NM_001369786
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSVKTRQRVEDAFYTLV
REIRQYRLKKISKEEKTPGCVKIKKCIIM*

Gene Symbol:KRAS
Accession:NM_004985
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSVKTRQGVDDAFYTLV
REIRKHKEKMSKDGKKKKKKSKTKCVIM*
Variant Samples
Additional References at PubMed
PMID:16361624   PMID:16618717   PMID:18316791   PMID:19114683   PMID:19255327   PMID:19679400   PMID:19773371   PMID:20921462   PMID:20921465   PMID:21228335   PMID:23406027   PMID:24836576  
PMID:25741868   PMID:26970110   PMID:28492532   PMID:30448735   PMID:30891959  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000423608 CLINVAR
  RCV000434735 CLINVAR
  RCV000441300 CLINVAR
  RCV000791299 CLINVAR
  RCV001839452 CLINVAR
  RCV002524688 CLINVAR
  RCV003332167 CLINVAR
  RCV003488585 CLINVAR
dbSNP (RS) rs1057519725 CLINVAR
MedGen C0005684 CLINVAR
  C0007131 CLINVAR
  C0009404 CLINVAR
  C0040136 CLINVAR
  C0406612 CLINVAR
  C3661900 CLINVAR
  C5555857 CLINVAR
NCBI Gene KRAS CLINVAR
OMIM 109800 CLINVAR
  190070 CLINVAR
  613001 CLINVAR
OMIM Allele 190070.0028 CLINVAR
SNOMED CT 126837005 CLINVAR
  238905009 CLINVAR
  254637007 CLINVAR
  399326009 CLINVAR