chr12:112450398:C>T Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,888,202-112,888,202 View the variant detail on this assembly version.
hg38 chr12:112,450,398-112,450,398

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.218C>T NP_002825.3:p.Thr73Ile
NM_080601.1:c.218C>T NP_542168.1:p.Thr73Ile
NM_001330437.1:c.218C>T NP_001317366.1:p.Thr73Ile
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
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 COSM13019 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic noonan syndrome unknown MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic noonan syndrome germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
Pathogenic noonan syndrome germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-10-27 criteria provided, multiple submitters, no conflicts Noonan syndrome 1 germline unknown Detail
Pathogenic 2023-07-25 criteria provided, single submitter RASopathy germline unknown Detail
Pathogenic 2019-04-06 criteria provided, multiple submitters, no conflicts Noonan syndrome germline Detail
Pathogenic 2023-03-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-05-18 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,Noonan syndrome 1,metachondromatosis unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,Noonan syndrome 1,metachondromatosis unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,Noonan syndrome 1,metachondromatosis unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,Noonan syndrome 1,metachondromatosis unknown Detail
Pathogenic 2021-05-25 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2016-04-01 criteria provided, single submitter germline Detail
Pathogenic 2022-11-01 criteria provided, single submitter metachondromatosis unknown Detail
Pathogenic 2022-11-01 criteria provided, single submitter LEOPARD syndrome 1 unknown 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
0.582 juvenile myelomonocytic leukemia NA CLINVAR Detail
0.694 Noonan syndrome A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congeni... BeFree 23446178 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) AND Cardiovascular phenotype ClinVar Detail
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) AND Metachondromatosis ClinVar Detail
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) AND LEOPARD syndrome 1 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia... 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
rs121918462 dbSNP
Genome
hg38
Position
chr12:112,450,398-112,450,398
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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