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

Go to:

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

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>A	NP_002825.3:p.Gln510Lys
	NM_001330437.1:c.1540C>A	NP_001317366.1:p.Gln514Lys
Ensemble	ENST00000351677.7:c.1528C>A	ENST00000351677.7:p.Gln510Lys
	ENST00000635625.1:c.1540C>A	ENST00000635625.1:p.Gln514Lys
	ENST00000639857.2:c.1528C>A	ENST00000639857.2:p.Gln510Lys
	ENST00000687906.1:c.1414C>A	ENST00000687906.1:p.Gln472Lys
	ENST00000688597.1:c.1224+6899C>A
	ENST00000690210.1:c.1528C>A	ENST00000690210.1:p.Gln510Lys

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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	COSM13031	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

[No Data.]

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
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: A

Genome browser