chr12:25380244:T>A Detail (hg19) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,380,244-25,380,244
hg38 chr12:25,227,310-25,227,310 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.214A>T NP_004976.2:p.Met72Leu
NM_033360.3:c.214A>T NP_203524.1:p.Met72Leu
Ensemble ENST00000688940.1:c.214A>T ENST00000688940.1:p.Met72Leu
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-11-12 criteria provided, single submitter Noonan syndrome germline Detail
Pathogenic Likely pathogenic 2023-02-15 criteria provided, multiple submitters, no conflicts RASopathy 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.214A>T (p.Met72Leu) AND Noonan syndrome ClinVar Detail
NM_004985.5(KRAS):c.214A>T (p.Met72Leu) AND RASopathy 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
rs727504662 dbSNP
Genome
hg19
Position
chr12:25,380,244-25,380,244
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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