RGD:9691740 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:9691740 -  Homo sapiens

RGD ID: 9691740
RS ID: rs727503110
ClinVar ID: CV48922
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRAS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 25,398,254
GRCh38 12 25,245,320
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000012.12:g.25245320T>C
NC_000012.11:g.25398254T>C
NM_004985.3:c.65A>G
NP_203524.1:p.Gln22Arg
More...
05/15/2020 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance neonatal/infancy 6-9 / 10 000 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; Hereditary diffuse 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

Variant Details
Variant Transcripts
Gene Symbol:KRAS
Accession:NM_004985
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIRLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQGVDDAFYTLV
REIRKHKEKMSKDGKKKKKKSKTKCVIM*

Gene Symbol:KRAS
Accession:NM_033360
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIRLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLV
REIRQYRLKKISKEEKTPGCVKIKKCIIM*

Gene Symbol:KRAS
Accession:NM_001369787
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIRLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQGVDDAFYTLV
REIRKHKEKMSKDGKKKKKKSKTKCVIM*

Gene Symbol:KRAS
Accession:NM_001369786
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIRLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLV
REIRQYRLKKISKEEKTPGCVKIKKCIIM*

Gene Symbol:KRAS
Accession:XM_047428826
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIRLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLV
REIRQYRLKKISKEEKTPGCVKIKKCIIMGVDDAFYTLVREIRKHKEKMSKDGKKKKKKSKTKCVIM*

Variant Samples
Additional References at PubMed
PMID:12110640   PMID:14982869   PMID:17056636   PMID:17324647   PMID:18628094   PMID:20652921   PMID:20949621   PMID:24033266   PMID:24803665   PMID:25741868   PMID:28492532   PMID:29948256  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000150893 CLINVAR
  RCV000157667 CLINVAR
  RCV000157946 CLINVAR
  RCV000506533 CLINVAR
  RCV000576784 CLINVAR
  RCV001095664 CLINVAR
  RCV001253410 CLINVAR
  RCV003224112 CLINVAR
dbSNP (RS) rs727503110 CLINVAR
MedGen C0028326 CLINVAR
  C0346153 CLINVAR
  C1708349 CLINVAR
  C1860991 CLINVAR
  C3661900 CLINVAR
  C5555857 CLINVAR
  CN169374 CLINVAR
NCBI Gene KRAS CLINVAR
OMIM 108010 CLINVAR
  109800 CLINVAR
  114480 CLINVAR
  137215 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