chr12:112450359:G>T Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,888,163-112,888,163 View the variant detail on this assembly version.
hg38 chr12:112,450,359-112,450,359

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.179G>T NP_002825.3:p.Gly60Val
NM_080601.1:c.179G>T NP_542168.1:p.Gly60Val
NM_001330437.1:c.179G>T NP_001317366.1:p.Gly60Val
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 COSM13028 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-07-26 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-01-05 criteria provided, multiple submitters, no conflicts Noonan syndrome 1 de novo germline unknown Detail
Pathogenic 2019-09-01 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2019-02-27 criteria provided, single submitter de novo Detail
Likely pathogenic 2022-03-12 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2023-01-04 criteria provided, single submitter LEOPARD syndrome 1,Noonan syndrome 1 de novo Detail
Pathogenic 2023-01-04 criteria provided, single submitter LEOPARD syndrome 1,Noonan syndrome 1 de novo Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Turner Syndrome, Male NA CLINVAR Detail
0.001 Central neuroblastoma The association of this p.G60A PTPN11 mutation with neuroblastoma provides new e... BeFree 18328949 Detail
0.121 neuroblastoma The association of this p.G60A PTPN11 mutation with neuroblastoma provides new e... BeFree 18328949 Detail
0.003 Solid tumour The association of this p.G60A PTPN11 mutation with neuroblastoma provides new e... BeFree 18328949 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) AND See cases ClinVar Detail
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of... DisGeNET Detail
The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of... DisGeNET Detail
The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of... 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
rs397507509 dbSNP
Genome
hg38
Position
chr12:112,450,359-112,450,359
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser