chr12:112450364:T>A 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	chr12:112,888,168-112,888,168 View the variant detail on this assembly version.
hg38	chr12:112,450,364-112,450,364

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.184T>A	NP_002825.3:p.Tyr62Asn
	NM_080601.1:c.184T>A	NP_542168.1:p.Tyr62Asn
	NM_001330437.1:c.184T>A	NP_001317366.1:p.Tyr62Asn
Ensemble	ENST00000351677.7:c.184T>A	ENST00000351677.7:p.Tyr62Asn
	ENST00000392597.5:c.184T>A	ENST00000392597.5:p.Tyr62Asn
	ENST00000635625.1:c.184T>A	ENST00000635625.1:p.Tyr62Asn
	ENST00000639857.2:c.184T>A	ENST00000639857.2:p.Tyr62Asn
	ENST00000687906.1:c.184T>A	ENST00000687906.1:p.Tyr62Asn
	ENST00000688597.1:c.184T>A	ENST00000688597.1:p.Tyr62Asn
	ENST00000690210.1:c.184T>A	ENST00000690210.1:p.Tyr62Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Likely pathogenic
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2022-12-02	criteria provided, single submitter	RASopathy	germline	Detail
Likely pathogenic	2022-03-22	criteria provided, single submitter	Noonan syndrome 1	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
0.004	Noonan syndrome	Counteracting effects operating on Src homology 2 domain-containing protein-tyro...	BeFree	22711529	Detail
0.694	Noonan syndrome	Counteracting effects operating on Src homology 2 domain-containing protein-tyro...	BeFree	22711529	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn) AND Noonan syndrome 1	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (...	DisGeNET	Detail
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (...	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: rs121918460 dbSNP
Genome: hg38
Position: chr12:112,450,364-112,450,364
Variant Type: snv
Reference Allele: T
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121392
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.237775141689733E-6

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