chr12:112419116:C>T Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,856,920-112,856,920 View the variant detail on this assembly version.
hg38 chr12:112,419,116-112,419,116

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.5C>T NP_002825.3:p.Thr2Ile
NM_080601.1:c.5C>T NP_542168.1:p.Thr2Ile
NM_001330437.1:c.5C>T NP_001317366.1:p.Thr2Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
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
Pathogenic 2024-02-13 criteria provided, multiple submitters, no conflicts Noonan syndrome 1 de novo germline inherited maternal paternal unknown Detail
Pathogenic Likely pathogenic 2022-06-16 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2016-02-10 criteria provided, single submitter Noonan syndrome germline Detail
Pathogenic 2024-01-12 criteria provided, multiple submitters, no conflicts RASopathy germline Detail
Pathogenic 2019-05-28 criteria provided, single submitter metachondromatosis unknown Detail
Pathogenic 2021-10-02 criteria provided, single submitter juvenile myelomonocytic leukemia,LEOPARD syndrome 1,metachondromatosis,Noonan syndrome 1 unknown Detail
Pathogenic 2021-10-02 criteria provided, single submitter juvenile myelomonocytic leukemia,LEOPARD syndrome 1,metachondromatosis,Noonan syndrome 1 unknown Detail
Pathogenic 2021-10-02 criteria provided, single submitter juvenile myelomonocytic leukemia,LEOPARD syndrome 1,metachondromatosis,Noonan syndrome 1 unknown Detail
Pathogenic 2021-10-02 criteria provided, single submitter juvenile myelomonocytic leukemia,LEOPARD syndrome 1,metachondromatosis,Noonan syndrome 1 unknown Detail
Pathogenic 2022-12-21 criteria provided, single submitter de novo Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Turner Syndrome, Male NA CLINVAR Detail
0.001 Spots on skin The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the ma... BeFree 19449407 Detail
0.002 neurofibromatosis 1 The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the ma... BeFree 19449407 Detail
0.001 Neurofibromatoses The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the ma... BeFree 19449407 Detail
0.001 Exanthema The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the ma... BeFree 19449407 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) AND Metachondromatosis ClinVar Detail
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) AND See cases ClinVar Detail
NA DisGeNET Detail
The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited N... DisGeNET Detail
The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited N... DisGeNET Detail
The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited N... DisGeNET Detail
The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited N... 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
rs267606990 dbSNP
Genome
hg38
Position
chr12:112,419,116-112,419,116
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser