chr12:25245284:G>C Detail (hg38) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,398,218-25,398,218 View the variant detail on this assembly version.
hg38 chr12:25,245,284-25,245,284

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.101C>G NP_004976.2:p.Pro34Arg
NM_033360.3:c.101C>G NP_203524.1:p.Pro34Arg
Ensemble ENST00000693229.1:c.101C>G ENST00000693229.1:p.Pro34Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM6930965 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2006-03-01 no assertion criteria provided cardiofaciocutaneous syndrome 2 germline Detail
Pathogenic 2022-06-14 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely pathogenic 2015-08-21 criteria provided, single submitter Cardio-facio-cutaneous syndrome,Noonan syndrome germline Detail
Likely pathogenic 2015-08-21 criteria provided, single submitter Cardio-facio-cutaneous syndrome,Noonan syndrome germline Detail
Pathogenic 2017-12-31 criteria provided, single submitter cardiofaciocutaneous syndrome 2,Noonan syndrome 3,autoimmune lymphoproliferative syndrome type 4,acute myeloid leukemia germline Detail
Pathogenic 2017-12-31 criteria provided, single submitter cardiofaciocutaneous syndrome 2,Noonan syndrome 3,autoimmune lymphoproliferative syndrome type 4,acute myeloid leukemia germline Detail
Pathogenic 2017-12-31 criteria provided, single submitter cardiofaciocutaneous syndrome 2,Noonan syndrome 3,autoimmune lymphoproliferative syndrome type 4,acute myeloid leukemia germline Detail
Pathogenic 2017-12-31 criteria provided, single submitter cardiofaciocutaneous syndrome 2,Noonan syndrome 3,autoimmune lymphoproliferative syndrome type 4,acute myeloid leukemia germline Detail
Pathogenic 2021-12-22 criteria provided, single submitter RASopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 cardiofaciocutaneous syndrome 2 NA CLINVAR Detail
0.440 Noonan syndrome 3 NA CLINVAR Detail
0.244 Cardio-facio-cutaneous syndrome We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V... BeFree 16474405 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) AND Cardiofaciocutaneous syndrome 2 ClinVar Detail
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) AND not provided ClinVar Detail
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) AND RASopathy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitu... 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
rs104894366 dbSNP
Genome
hg38
Position
chr12:25,245,284-25,245,284
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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