chr12:112910827:A>C 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	chr12:112,910,827-112,910,827
hg38	chr12:112,473,023-112,473,023 View the variant detail on this assembly version.

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.836A>C	NP_002825.3:p.Tyr279Ser
	NM_080601.1:c.836A>C	NP_542168.1:p.Tyr279Ser
	NM_001330437.1:c.836A>C	NP_001317366.1:p.Tyr279Ser
Ensemble	ENST00000687906.1:c.722A>C	ENST00000687906.1:p.Tyr241Ser
	ENST00000351677.7:c.836A>C	ENST00000351677.7:p.Tyr279Ser
	ENST00000392597.5:c.836A>C	ENST00000392597.5:p.Tyr279Ser
	ENST00000688597.1:c.836A>C	ENST00000688597.1:p.Tyr279Ser
	ENST00000635625.1:c.836A>C	ENST00000635625.1:p.Tyr279Ser
	ENST00000639857.2:c.836A>C	ENST00000639857.2:p.Tyr279Ser
	ENST00000690210.1:c.836A>C	ENST00000690210.1:p.Tyr279Ser

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	LEOPARD syndrome 1	unknown	Detail
Pathogenic	2022-12-10	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
0.694	Noonan syndrome	NA	CLINVAR		Detail
0.001	Exanthema	We hypothesise that some PTPN11 mutations are associated with the typical Noonan...	BeFree	12161596	Detail
0.480	LEOPARD Syndrome	LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous ma...	BeFree	19768645	Detail
0.001	Multiple lentigines	In the present series of patients from one family, all patients carry the same r...	BeFree	24401936	Detail
0.480	LEOPARD Syndrome	Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid su...	BeFree	16358218	Detail
0.001	Spots on skin	We hypothesise that some PTPN11 mutations are associated with the typical Noonan...	BeFree	12161596	Detail
<0.001	Dwarfism	We conclude that each mutation contributed independently to individual features ...	BeFree	19725129	Detail
0.694	Noonan syndrome	We hypothesise that some PTPN11 mutations are associated with the typical Noonan...	BeFree	12161596	Detail
0.002	Dwarfism	Ptpn11(Y279C/+) (LS/+) mice recapitulated the human disorder, with short stature...	BeFree	21339643	Detail
0.002	Dwarfism	We conclude that each mutation contributed independently to individual features ...	BeFree	19725129	Detail
0.001	Multiple lentigines	We hypothesise that some PTPN11 mutations are associated with the typical Noonan...	BeFree	12161596	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.836A>C (p.Tyr279Ser) AND LEOPARD syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.836A>C (p.Tyr279Ser) AND RASopathy	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype ...	DisGeNET	Detail
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two ca...	DisGeNET	Detail
In the present series of patients from one family, all patients carry the same recurrent mutation Y2...	DisGeNET	Detail
Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender...	DisGeNET	Detail
We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype ...	DisGeNET	Detail
We conclude that each mutation contributed independently to individual features in the ocular and ca...	DisGeNET	Detail
We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype ...	DisGeNET	Detail
Ptpn11(Y279C/+) (LS/+) mice recapitulated the human disorder, with short stature, craniofacial dysmo...	DisGeNET	Detail
We conclude that each mutation contributed independently to individual features in the ocular and ca...	DisGeNET	Detail
We hypothesise that some PTPN11 mutations are associated with the typical Noonan 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: rs121918456 dbSNP
Genome: hg19
Position: chr12:112,910,827-112,910,827
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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