chr12:112888212:G>T Detail (hg19) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,888,212-112,888,212
hg38 chr12:112,450,408-112,450,408 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.228G>T NP_002825.3:p.Glu76Asp
NM_080601.1:c.228G>T NP_542168.1:p.Glu76Asp
NM_001330437.1:c.228G>T NP_001317366.1:p.Glu76Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 2023-10-04 criteria provided, multiple submitters, no conflicts RASopathy germline unknown Detail
Pathogenic 2022-04-01 criteria provided, multiple submitters, no conflicts Noonan syndrome de novo germline Detail
Pathogenic 2022-02-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Noonan syndrome 1,juvenile myelomonocytic leukemia,metachondromatosis,LEOPARD syndrome 1 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Noonan syndrome 1,juvenile myelomonocytic leukemia,metachondromatosis,LEOPARD syndrome 1 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Noonan syndrome 1,juvenile myelomonocytic leukemia,metachondromatosis,LEOPARD syndrome 1 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Noonan syndrome 1,juvenile myelomonocytic leukemia,metachondromatosis,LEOPARD syndrome 1 unknown Detail
Pathogenic 2020-08-05 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic no assertion criteria provided Noonan syndrome 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.694 Noonan syndrome Wild type SHP-2 and four disease-associated mutants recurring in hematologic mal... BeFree 17177198 Detail
0.002 Hematologic Neoplasms Wild type SHP-2 and four disease-associated mutants recurring in hematologic mal... BeFree 17177198 Detail
0.120 Turner Syndrome, Male NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) AND Noonan syndrome 1 ClinVar Detail
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys ... DisGeNET Detail
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys ... DisGeNET 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
rs397507514 dbSNP
Genome
hg19
Position
chr12:112,888,212-112,888,212
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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