chr12:25227351:G>A Detail (hg38) (KRAS)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

KRAS

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	ENST00000311936.8:c.173C>T	ENST00000311936.8:p.Thr58Ile
	ENST00000557334.6:c.112-17440C>T
	ENST00000685328.1:c.173C>T	ENST00000685328.1:p.Thr58Ile
	ENST00000688940.1:c.173C>T	ENST00000688940.1:p.Thr58Ile
	ENST00000692768.1:c.-26C>T
	ENST00000693229.1:c.112-14C>T
	ENST00000256078.10:c.173C>T	ENST00000256078.10:p.Thr58Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

KRAS

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

[No Data.]

MGeND

[No Data.]

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

Descrption	Source	Links
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: hg38
Position: chr12:25,227,351-25,227,351
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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