RGD:9832751 Rat Genome Database

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Variant: RGD:9832751 -  Homo sapiens

RGD ID: 9832751
RS ID: rs730880473
ClinVar ID: CV179459
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRAS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 25,378,609
GRCh38 12 25,225,675
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.25225675G>A
NC_000012.11:g.25378609G>A
NM_004985.3:c.389C>T
NP_203524.1:p.Ala130Val
More... 		10/03/2017 missense variant uncertain significance Acute granulocytic leukemia; Acute myelogenous leukemia; Acute myeloid leukemia; Acute myeloid leukemia, adult; Acute non-lymphocytic leukemia; AllHighlyPenetrant; AML adult; Aplasia cutis congenita with epibulbar dermoids; Arteriovenous malformations of the brain; Autoimmune lymphoproliferative syndrome type 4; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV; Bladder cancer; Breast cancer, familial; Carcinoma of pancreas; Cardiofaciocutaneous syndrome 2; Cerebral arteriovenous malformation; CEREBRAL ARTERIOVENOUS MALFORMATIONS; Exocrine pancreatic carcinoma; Gastric cancer; Jadassohn nevus phakomatosis; KRAS gene related Noonan syndrome; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid, somatic; Linear nevus sebaceous; Linear nevus sebaceous syndrome; Linear sebaceous nevus sequence; Lung cancer; Lung cancer, somatic; Malignant tumor of lung; Malignant tumor of stomach; Malignant tumor of urinary bladder; Nevus sebaceus of Jadassohn; Nevus, Sebaceous of Jadassohn; none provided; Noonan spectrum disorder; Noonan syndrome 3; Noonan's syndrome; Oculoectodermal syndrome; Organoid nevus phakomatosis; PANCREATIC ACINAR CARCINOMA; Pancreatic cancer, somatic; PANCREATIC CARCINOMA; Pancreatic carcinoma, somatic; Pseudo-Turner syndrome; RAS-associated autoimmune leukoproliferative disorder; rasopathies; SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC; Sebaceous nevus syndrome and hemimegalencephaly; SFM syndrome; Stomach cancer; Toriello-Lacassie-Droste syndrome; Urinary bladder cancer; Urinary Bladder Neoplasms
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KRAS
Accession:NM_004985
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQVQDLARSYGIPFIETSAKTRQGVDDAFYTLV
REIRKHKEKMSKDGKKKKKKSKTKCVIM*

Gene Symbol:KRAS
Accession:NM_001369786
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQVQDLARSYGIPFIETSAKTRQRVEDAFYTLV
REIRQYRLKKISKEEKTPGCVKIKKCIIM*

Gene Symbol:KRAS
Accession:NM_033360
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQVQDLARSYGIPFIETSAKTRQRVEDAFYTLV
REIRQYRLKKISKEEKTPGCVKIKKCIIM*

Gene Symbol:KRAS
Accession:XM_047428826
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQVQDLARSYGIPFIETSAKTRQRVEDAFYTLV
REIRQYRLKKISKEEKTPGCVKIKKCIIMGVDDAFYTLVREIRKHKEKMSKDGKKKKKKSKTKCVIM*

Gene Symbol:KRAS
Accession:NM_001369787
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQVQDLARSYGIPFIETSAKTRQGVDDAFYTLV
REIRKHKEKMSKDGKKKKKKSKTKCVIM*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:31117243  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000157950 CLINVAR
  RCV000349904 CLINVAR
  RCV001280675 CLINVAR
  RCV001368828 CLINVAR
  RCV002478474 CLINVAR
dbSNP (RS) rs730880473 CLINVAR
MedGen C0028326 CLINVAR
  C0346153 CLINVAR
  C3661900 CLINVAR
  C5555857 CLINVAR
  CN169374 CLINVAR
NCBI Gene KRAS CLINVAR
OMIM 108010 CLINVAR
  109800 CLINVAR
  114480 CLINVAR
  163200 CLINVAR
  190070 CLINVAR
  211980 CLINVAR
  260350 CLINVAR
  600268 CLINVAR
  601626 CLINVAR
  609942 CLINVAR
  613659 CLINVAR
  614470 CLINVAR
  615278 CLINVAR
SNOMED CT 205824006 CLINVAR
  254843006 CLINVAR