chr12:112489104:C>G Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,926,908-112,926,908 View the variant detail on this assembly version.
hg38 chr12:112,489,104-112,489,104

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.1528C>G NP_002825.3:p.Gln510Glu
NM_001330437.1:c.1540C>G NP_001317366.1:p.Gln514Glu
Ensemble ENST00000351677.7:c.1528C>G ENST00000351677.7:p.Gln510Glu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 COSM4167608 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic noonan syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic leopard syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-27 criteria provided, single submitter RASopathy germline unknown Detail
not provided no assertion provided LEOPARD syndrome 1 unknown Detail
Pathogenic 2023-05-21 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2016-03-07 criteria provided, single submitter Noonan syndrome 3 germline Detail
Pathogenic 2019-09-06 criteria provided, single submitter germline Detail
Pathogenic 2023-03-23 criteria provided, multiple submitters, no conflicts Noonan syndrome 1 de novo germline Detail
Pathogenic 2012-06-14 criteria provided, single submitter Noonan syndrome with multiple lentigines,Noonan syndrome germline Detail
Pathogenic 2012-06-14 criteria provided, single submitter Noonan syndrome with multiple lentigines,Noonan syndrome germline Detail
Pathogenic 2020-12-15 criteria provided, single submitter germline Detail
Pathogenic criteria provided, single submitter PTPN11-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Turner Syndrome, Male NA CLINVAR Detail
0.480 LEOPARD Syndrome In the boy, progressive HCM was diagnosed during the first week of life and a di... BeFree 25708222 Detail
0.480 LEOPARD Syndrome PTPN11 gene mutations: linking the Gln510Glu mutation to the LEOPARD syndrome ph... BeFree 16733669 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND LEOPARD syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND Noonan syndrome 3 ClinVar Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND Cardiovascular phenotype ClinVar Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND See cases ClinVar Detail
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) AND PTPN11-related disorder ClinVar Detail
NA DisGeNET Detail
In the boy, progressive HCM was diagnosed during the first week of life and a diagnosis of NSML was ... DisGeNET Detail
PTPN11 gene mutations: linking the Gln510Glu mutation to the LEOPARD 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
rs397507549 dbSNP
Genome
hg38
Position
chr12:112,489,104-112,489,104
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser