chr12:25245320:T>C Detail (hg38) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,398,254-25,398,254 View the variant detail on this assembly version.
hg38 chr12:25,245,320-25,245,320

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.65A>G NP_004976.2:p.Gln22Arg
NM_033360.3:c.65A>G NP_203524.1:p.Gln22Arg
Ensemble ENST00000256078.10:c.65A>G ENST00000256078.10:p.Gln22Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 190070 OMIM
HGNC 6407 HGNC
Ensembl ENSG00000133703 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1360868 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-04-03 reviewed by expert panel Noonan syndrome germline Detail
Pathogenic 2022-05-20 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-12-13 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2017-01-05 criteria provided, single submitter not specified germline Detail
Pathogenic 2017-08-01 criteria provided, single submitter cardiofaciocutaneous syndrome 2,Noonan syndrome 3 germline Detail
Pathogenic 2017-08-01 criteria provided, single submitter cardiofaciocutaneous syndrome 2,Noonan syndrome 3 germline Detail
Pathogenic 2022-03-22 criteria provided, multiple submitters, no conflicts Noonan syndrome 3 de novo germline unknown Detail
Uncertain significance 2018-03-06 criteria provided, single submitter Hereditary diffuse gastric adenocarcinoma germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter Carcinoma of pancreas,linear nevus sebaceous syndrome,Familial cancer of breast,lung cancer,acute myeloid leukemia,cardiofaciocutaneous syndrome 2,autoimmune lymphoproliferative syndrome type 4,Malignant tumor of urinary bladder,Toriello-Lacassie-Droste syndrome,Noonan syndrome 3,Cerebral arteriovenous malformation,Gastric cancer germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter Carcinoma of pancreas,linear nevus sebaceous syndrome,Familial cancer of breast,lung cancer,acute myeloid leukemia,cardiofaciocutaneous syndrome 2,autoimmune lymphoproliferative syndrome type 4,Malignant tumor of urinary bladder,Toriello-Lacassie-Droste syndrome,Noonan syndrome 3,Cerebral arteriovenous malformation,Gastric cancer germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter Carcinoma of pancreas,linear nevus sebaceous syndrome,Familial cancer of breast,lung cancer,acute myeloid leukemia,cardiofaciocutaneous syndrome 2,autoimmune lymphoproliferative syndrome type 4,Malignant tumor of urinary bladder,Toriello-Lacassie-Droste syndrome,Noonan syndrome 3,Cerebral arteriovenous malformation,Gastric cancer germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter Carcinoma of pancreas,linear nevus sebaceous syndrome,Familial cancer of breast,lung cancer,acute myeloid leukemia,cardiofaciocutaneous syndrome 2,autoimmune lymphoproliferative syndrome type 4,Malignant tumor of urinary bladder,Toriello-Lacassie-Droste syndrome,Noonan syndrome 3,Cerebral arteriovenous malformation,Gastric cancer germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter Carcinoma of pancreas,linear nevus sebaceous syndrome,Familial cancer of breast,lung cancer,acute myeloid leukemia,cardiofaciocutaneous syndrome 2,autoimmune lymphoproliferative syndrome type 4,Malignant tumor of urinary bladder,Toriello-Lacassie-Droste syndrome,Noonan syndrome 3,Cerebral arteriovenous malformation,Gastric cancer germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter Carcinoma of pancreas,linear nevus sebaceous syndrome,Familial cancer of breast,lung cancer,acute myeloid leukemia,cardiofaciocutaneous syndrome 2,autoimmune lymphoproliferative syndrome type 4,Malignant tumor of urinary bladder,Toriello-Lacassie-Droste syndrome,Noonan syndrome 3,Cerebral arteriovenous malformation,Gastric cancer germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter Carcinoma of pancreas,linear nevus sebaceous syndrome,Familial cancer of breast,lung cancer,acute myeloid leukemia,cardiofaciocutaneous syndrome 2,autoimmune lymphoproliferative syndrome type 4,Malignant tumor of urinary bladder,Toriello-Lacassie-Droste syndrome,Noonan syndrome 3,Cerebral arteriovenous malformation,Gastric cancer germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter Carcinoma of pancreas,linear nevus sebaceous syndrome,Familial cancer of breast,lung cancer,acute myeloid leukemia,cardiofaciocutaneous syndrome 2,autoimmune lymphoproliferative syndrome type 4,Malignant tumor of urinary bladder,Toriello-Lacassie-Droste syndrome,Noonan syndrome 3,Cerebral arteriovenous malformation,Gastric cancer germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter Carcinoma of pancreas,linear nevus sebaceous syndrome,Familial cancer of breast,lung cancer,acute myeloid leukemia,cardiofaciocutaneous syndrome 2,autoimmune lymphoproliferative syndrome type 4,Malignant tumor of urinary bladder,Toriello-Lacassie-Droste syndrome,Noonan syndrome 3,Cerebral arteriovenous malformation,Gastric cancer germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter Carcinoma of pancreas,linear nevus sebaceous syndrome,Familial cancer of breast,lung cancer,acute myeloid leukemia,cardiofaciocutaneous syndrome 2,autoimmune lymphoproliferative syndrome type 4,Malignant tumor of urinary bladder,Toriello-Lacassie-Droste syndrome,Noonan syndrome 3,Cerebral arteriovenous malformation,Gastric cancer germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter Carcinoma of pancreas,linear nevus sebaceous syndrome,Familial cancer of breast,lung cancer,acute myeloid leukemia,cardiofaciocutaneous syndrome 2,autoimmune lymphoproliferative syndrome type 4,Malignant tumor of urinary bladder,Toriello-Lacassie-Droste syndrome,Noonan syndrome 3,Cerebral arteriovenous malformation,Gastric cancer germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter Carcinoma of pancreas,linear nevus sebaceous syndrome,Familial cancer of breast,lung cancer,acute myeloid leukemia,cardiofaciocutaneous syndrome 2,autoimmune lymphoproliferative syndrome type 4,Malignant tumor of urinary bladder,Toriello-Lacassie-Droste syndrome,Noonan syndrome 3,Cerebral arteriovenous malformation,Gastric cancer germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 Noonan syndrome 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND Noonan syndrome ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND not provided ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND RASopathy ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND not specified ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND Noonan syndrome 3 ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND Hereditary diffuse gastric adenocarcinoma ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs727503110 dbSNP
Genome
hg38
Position
chr12:25,245,320-25,245,320
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser