chr12:112888163:GTG> 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	chr12:112,888,163-112,888,165
hg38	chr12:112,450,359-112,450,361

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.179_181delGTG	NP_002825.3:p.Gly60del
	NM_080601.1:c.179_181delGTG	NP_542168.1:p.Gly60del
	NM_001330437.1:c.179_181delGTG	NP_001317366.1:p.Gly60del
Ensemble	ENST00000351677.7:c.179_181delGTG	ENST00000351677.7:p.Gly60del
	ENST00000392597.5:c.179_181delGTG	ENST00000392597.5:p.Gly60del
	ENST00000635625.1:c.179_181delGTG	ENST00000635625.1:p.Gly60del
	ENST00000639857.2:c.179_181delGTG	ENST00000639857.2:p.Gly60del
	ENST00000687906.1:c.179_181delGTG	ENST00000687906.1:p.Gly60del
	ENST00000688597.1:c.179_181delGTG	ENST00000688597.1:p.Gly60del
	ENST00000690210.1:c.179_181delGTG	ENST00000690210.1:p.Gly60del

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
	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

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2004-07-01	no assertion criteria provided	Noonan syndrome 1	germline unknown	Detail
Uncertain significance	2022-07-06	criteria provided, single submitter	RASopathy	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.179_181del (p.Gly60del) AND Noonan syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.179_181del (p.Gly60del) 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: rs80338836 dbSNP
Genome: hg19
Position: chr12:112,888,163-112,888,165
Variant Type: snv
Reference Allele: GTG
Alternative Allele: -

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