chr12:112926258:G>C 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	chr12:112,926,258-112,926,258
hg38	chr12:112,488,454-112,488,454 View the variant detail on this assembly version.

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.1391G>C	NP_002825.3:p.Gly464Ala
	NM_001330437.1:c.1403G>C	NP_001317366.1:p.Gly468Ala
Ensemble	ENST00000351677.7:c.1391G>C	ENST00000351677.7:p.Gly464Ala
	ENST00000639857.2:c.1391G>C	ENST00000639857.2:p.Gly464Ala
	ENST00000635625.1:c.1403G>C	ENST00000635625.1:p.Gly468Ala
	ENST00000687906.1:c.1277G>C	ENST00000687906.1:p.Gly426Ala
	ENST00000688597.1:c.1224+6249G>C
	ENST00000690210.1:c.1391G>C	ENST00000690210.1:p.Gly464Ala

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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	COSM6912596	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		leopard syndrome	germline	MGS000083 (TMGS000166)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Keio University
Pathogenic		leopard syndrome	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-11	criteria provided, multiple submitters, no conflicts	RASopathy	germline	Detail
Pathogenic	2004-11-01	no assertion criteria provided	LEOPARD syndrome 1	germline unknown	Detail
Pathogenic	2023-11-14	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2014-03-04	criteria provided, single submitter	Noonan syndrome with multiple lentigines,Noonan syndrome	germline	Detail
Pathogenic	2014-03-04	criteria provided, single submitter	Noonan syndrome with multiple lentigines,Noonan syndrome	germline	Detail
Pathogenic	2022-06-30	criteria provided, multiple submitters, no conflicts	Noonan syndrome 1	germline maternal	Detail
Pathogenic	2019-06-18	criteria provided, single submitter	Noonan syndrome and Noonan-related syndrome	germline	Detail
Pathogenic	2022-01-03	criteria provided, single submitter		germline	Detail
Pathogenic	2024-02-02	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

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) AND LEOPARD syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) AND Noonan syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) AND Noonan syndrome and Noonan-related syndrome	ClinVar	Detail
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) AND Cardiovascular phenotype	ClinVar	Detail
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) AND PTPN11-related disorder	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: rs121918469 dbSNP
Genome: hg19
Position: chr12:112,926,258-112,926,258
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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