chr12:112473033:C>G Detail (hg38) (PTPN11)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr12:112,910,837-112,910,837 View the variant detail on this assembly version.
hg38	chr12:112,473,033-112,473,033

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.846C>G	NP_002825.3:p.Ile282Met
	NM_080601.1:c.846C>G	NP_542168.1:p.Ile282Met
	NM_001330437.1:c.846C>G	NP_001317366.1:p.Ile282Met
Ensemble	ENST00000351677.7:c.846C>G	ENST00000351677.7:p.Ile282Met
	ENST00000392597.5:c.846C>G	ENST00000392597.5:p.Ile282Met
	ENST00000635625.1:c.846C>G	ENST00000635625.1:p.Ile282Met
	ENST00000639857.2:c.846C>G	ENST00000639857.2:p.Ile282Met
	ENST00000687906.1:c.732C>G	ENST00000687906.1:p.Ile244Met
	ENST00000688597.1:c.846C>G	ENST00000688597.1:p.Ile282Met
	ENST00000690210.1:c.846C>G	ENST00000690210.1:p.Ile282Met

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

PTPN11

Type	Database	ID	Link
Gene	MIM	176876	OMIM
	HGNC	9644	HGNC
	Ensembl	ENSG00000179295	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM35820	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-07-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2018-12-21	criteria provided, single submitter	Noonan syndrome	de novo germline	Detail
Pathogenic Likely pathogenic	2022-01-05	criteria provided, multiple submitters, no conflicts	Noonan syndrome 1	de novo germline maternal	Detail
Pathogenic	2022-10-24	criteria provided, single submitter	RASopathy	germline	Detail
Likely pathogenic	2020-08-10	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Turner Syndrome, Male	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) AND Noonan syndrome	ClinVar	Detail
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) AND Noonan syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) AND Cardiovascular phenotype	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: rs397507530 dbSNP
Genome: hg38
Position: chr12:112,473,033-112,473,033
Variant Type: snv
Reference Allele: C
Alternative Allele: G

Genome browser