chr12:112926908:C>G Detail (hg19) (PTPN11)

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

Genome

Assembly	Position
hg19	chr12:112,926,908-112,926,908
hg38	chr12:112,489,104-112,489,104 View the variant detail on this assembly version.

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.1528C>G	NP_002825.3:p.Gln510Glu
	NM_001330437.1:c.1540C>G	NP_001317366.1:p.Gln514Glu
Ensemble	ENST00000351677.7:c.1528C>G	ENST00000351677.7:p.Gln510Glu
	ENST00000635625.1:c.1540C>G	ENST00000635625.1:p.Gln514Glu
	ENST00000639857.2:c.1528C>G	ENST00000639857.2:p.Gln510Glu
	ENST00000687906.1:c.1414C>G	ENST00000687906.1:p.Gln472Glu
	ENST00000688597.1:c.1224+6899C>G
	ENST00000690210.1:c.1528C>G	ENST00000690210.1:p.Gln510Glu

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM4167608	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		noonan syndrome	germline	MGS000019 (TMGS000036)	Yoichi Matsubara	National Center for Child Health and Development
Pathogenic		leopard syndrome	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		noonan syndrome	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-11-27	criteria provided, single submitter	RASopathy	germline unknown	Detail
not provided		no assertion provided	LEOPARD syndrome 1	unknown	Detail
Pathogenic	2023-05-21	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2016-03-07	criteria provided, single submitter	Noonan syndrome 3	germline	Detail
Pathogenic	2019-09-06	criteria provided, single submitter		germline	Detail
Pathogenic	2023-03-23	criteria provided, multiple submitters, no conflicts	Noonan syndrome 1	de novo germline	Detail
Pathogenic	2012-06-14	criteria provided, single submitter	Noonan syndrome with multiple lentigines,Noonan syndrome	germline	Detail
Pathogenic	2012-06-14	criteria provided, single submitter	Noonan syndrome with multiple lentigines,Noonan syndrome	germline	Detail
Pathogenic	2020-12-15	criteria provided, single submitter		germline	Detail
Pathogenic		criteria provided, single submitter	PTPN11-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Turner Syndrome, Male	NA	CLINVAR		Detail
0.480	LEOPARD Syndrome	In the boy, progressive HCM was diagnosed during the first week of life and a di...	BeFree	25708222	Detail
0.480	LEOPARD Syndrome	PTPN11 gene mutations: linking the Gln510Glu mutation to the LEOPARD syndrome ph...	BeFree	16733669	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND LEOPARD syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND Noonan syndrome 3	ClinVar	Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND Cardiovascular phenotype	ClinVar	Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND Noonan syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND See cases	ClinVar	Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND PTPN11-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
In the boy, progressive HCM was diagnosed during the first week of life and a diagnosis of NSML was ...	DisGeNET	Detail
PTPN11 gene mutations: linking the Gln510Glu mutation to the LEOPARD syndrome phenotype.	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: rs397507549 dbSNP
Genome: hg19
Position: chr12:112,926,908-112,926,908
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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