chr12:112888166:A>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	chr12:112,888,166-112,888,166
hg38	chr12:112,450,362-112,450,362 View the variant detail on this assembly version.

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.182A>G	NP_002825.3:p.Asp61Gly
	NM_080601.1:c.182A>G	NP_542168.1:p.Asp61Gly
	NM_001330437.1:c.182A>G	NP_001317366.1:p.Asp61Gly
Ensemble	ENST00000351677.7:c.182A>G	ENST00000351677.7:p.Asp61Gly
	ENST00000392597.5:c.182A>G	ENST00000392597.5:p.Asp61Gly
	ENST00000635625.1:c.182A>G	ENST00000635625.1:p.Asp61Gly
	ENST00000639857.2:c.182A>G	ENST00000639857.2:p.Asp61Gly
	ENST00000687906.1:c.182A>G	ENST00000687906.1:p.Asp61Gly
	ENST00000688597.1:c.182A>G	ENST00000688597.1:p.Asp61Gly
	ENST00000690210.1:c.182A>G	ENST00000690210.1:p.Asp61Gly

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	COSM14269	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		noonan syndrome	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University
Pathogenic		noonan syndrome	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-12-20	criteria provided, multiple submitters, no conflicts	Noonan syndrome 1	unknown de novo germline maternal	Detail
Pathogenic	2024-01-09	criteria provided, multiple submitters, no conflicts	RASopathy	germline	Detail
Pathogenic	2024-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2011-11-01	no assertion criteria provided	Noonan syndrome	germline	Detail
Pathogenic	2017-01-01	criteria provided, single submitter		unknown	Detail
Pathogenic	2015-07-14	criteria provided, single submitter	Noonan syndrome,juvenile myelomonocytic leukemia	germline	Detail
Pathogenic	2015-07-14	criteria provided, single submitter	Noonan syndrome,juvenile myelomonocytic leukemia	germline	Detail
Pathogenic	2022-06-28	criteria provided, multiple submitters, no conflicts	LEOPARD syndrome 1	unknown	Detail
Pathogenic	2020-08-13	criteria provided, single submitter	Non-immune hydrops fetalis	de novo	Detail
Pathogenic	2018-07-17	criteria provided, single submitter	Noonan syndrome and Noonan-related syndrome	germline	Detail
Pathogenic	2021-10-22	criteria provided, single submitter	metachondromatosis,juvenile myelomonocytic leukemia,LEOPARD syndrome 1,Noonan syndrome 1	unknown	Detail
Pathogenic	2021-10-22	criteria provided, single submitter	metachondromatosis,juvenile myelomonocytic leukemia,LEOPARD syndrome 1,Noonan syndrome 1	unknown	Detail
Pathogenic	2021-10-22	criteria provided, single submitter	metachondromatosis,juvenile myelomonocytic leukemia,LEOPARD syndrome 1,Noonan syndrome 1	unknown	Detail
Pathogenic	2021-10-22	criteria provided, single submitter	metachondromatosis,juvenile myelomonocytic leukemia,LEOPARD syndrome 1,Noonan syndrome 1	unknown	Detail
Pathogenic	2022-06-28	criteria provided, single submitter	metachondromatosis	unknown	Detail
Pathogenic	2024-02-28	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
0.694	Noonan syndrome	NA	CLINVAR		Detail
0.582	juvenile myelomonocytic leukemia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND Noonan syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND Noonan syndrome	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND LEOPARD syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND Non-immune hydrops fetalis	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND Noonan syndrome and Noonan-related syndrome	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND Metachondromatosis	ClinVar	Detail
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND PTPN11-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs121918461 dbSNP
Genome: hg19
Position: chr12:112,888,166-112,888,166
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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