chr12:25380285:G>A Detail (hg19) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,380,285-25,380,285
hg38 chr12:25,227,351-25,227,351 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.173C>T NP_004976.2:p.Thr58Ile
NM_033360.3:c.173C>T NP_203524.1:p.Thr58Ile
Ensemble ENST00000256078.10:c.173C>T ENST00000256078.10:p.Thr58Ile
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 COSM5490513 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 pyloric antrum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-04-14 criteria provided, multiple submitters, no conflicts Noonan syndrome 3 germline Detail
Pathogenic 2017-07-13 criteria provided, single submitter not provided germline Detail
Pathogenic 2017-04-03 reviewed by expert panel Noonan syndrome germline Detail
Pathogenic 2022-04-04 criteria provided, single submitter 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.173C>T (p.Thr58Ile) AND Noonan syndrome 3 ClinVar Detail
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) AND not provided ClinVar Detail
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) AND Noonan syndrome ClinVar Detail
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) 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
rs104894364 dbSNP
Genome
hg19
Position
chr12:25,380,285-25,380,285
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser