chr12:112489093:A>C Detail (hg38) (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	chr12:112,926,897-112,926,897 View the variant detail on this assembly version.
hg38	chr12:112,489,093-112,489,093

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.1517A>C	NP_002825.3:p.Gln506Pro
	NM_001330437.1:c.1529A>C	NP_001317366.1:p.Gln510Pro
Ensemble	ENST00000351677.7:c.1517A>C	ENST00000351677.7:p.Gln506Pro
	ENST00000635625.1:c.1529A>C	ENST00000635625.1:p.Gln510Pro
	ENST00000639857.2:c.1517A>C	ENST00000639857.2:p.Gln506Pro
	ENST00000687906.1:c.1403A>C	ENST00000687906.1:p.Gln468Pro
	ENST00000688597.1:c.1224+6888A>C
	ENST00000690210.1:c.1517A>C	ENST00000690210.1:p.Gln506Pro

Summary

MGeND

Clinical significance
Variant entry
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	COSM1658770	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-12-13	criteria provided, multiple submitters, no conflicts	RASopathy	germline	Detail
not provided		no assertion provided	LEOPARD syndrome 1	unknown	Detail
Pathogenic	2015-09-29	criteria provided, single submitter	Noonan syndrome with multiple lentigines	germline	Detail
Pathogenic	2022-06-06	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-03-05	criteria provided, single submitter	Noonan syndrome	germline	Detail
Pathogenic	2016-11-09	criteria provided, single submitter		germline	Detail
Pathogenic	2024-02-08	criteria provided, multiple submitters, no conflicts	PTPN11-related disorder	germline	Detail
Pathogenic	2022-09-09	criteria provided, single submitter	Noonan syndrome 1	de novo	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Turner Syndrome, Male	NA	CLINVAR		Detail
0.582	juvenile myelomonocytic leukemia	NA	CLINVAR		Detail
0.694	Noonan syndrome	We report on a 26-year-old female with features of Noonan syndrome-Multiple Lent...	BeFree	22528600	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) AND LEOPARD syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) AND Noonan syndrome with multiple lentigines	ClinVar	Detail
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) AND Noonan syndrome	ClinVar	Detail
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) AND Cardiovascular phenotype	ClinVar	Detail
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) AND PTPN11-related disorder	ClinVar	Detail
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) AND Noonan syndrome 1	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heteroz...	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: rs397507548 dbSNP
Genome: hg38
Position: chr12:112,489,093-112,489,093
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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