chr12:112924286:C>T Detail (hg19) (PTPN11)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr12:112,924,286-112,924,286
hg38	chr12:112,486,482-112,486,482 View the variant detail on this assembly version.

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_001330437.1:c.1244C>T	NP_001317366.1:p.Thr415Met
	NM_080601.1:c.1232C>T	NP_542168.1:p.Thr411Met
	NM_002834.3:c.1232C>T	NP_002825.3:p.Thr411Met
Ensemble	ENST00000639857.2:c.1232C>T	ENST00000639857.2:p.Thr411Met
	ENST00000635625.1:c.1244C>T	ENST00000635625.1:p.Thr415Met
	ENST00000690210.1:c.1232C>T	ENST00000690210.1:p.Thr411Met
	ENST00000392597.5:c.1232C>T	ENST00000392597.5:p.Thr411Met
	ENST00000688597.1:c.1224+4277C>T
	ENST00000351677.7:c.1232C>T	ENST00000351677.7:p.Thr411Met
	ENST00000687906.1:c.1118C>T	ENST00000687906.1:p.Thr373Met

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	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	COSM4038882	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic		criteria provided, single submitter	Noonan syndrome 1	germline unknown	Detail
Uncertain significance	2019-12-05	reviewed by expert panel	RASopathy	germline	Detail
Uncertain significance	2019-09-16	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2020-09-01	criteria provided, single submitter	Acute megakaryoblastic leukemia in down syndrome	somatic	Detail
Uncertain significance	2023-06-08	criteria provided, single submitter		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.1232C>T (p.Thr411Met) AND Noonan syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) AND Acute megakaryoblastic leukemia in down syndrome	ClinVar	Detail
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) AND Cardiovascular phenotype	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: rs121918467 dbSNP
Genome: hg19
Position: chr12:112,924,286-112,924,286
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8636
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): 121062
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): 8.260230295220631E-6

Genome browser