chr12:112926909:A>C Detail (hg19) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,926,909-112,926,909
hg38 chr12:112,489,105-112,489,105 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001330437.1:c.1541A>C NP_001317366.1:p.Gln514Pro
NM_002834.3:c.1529A>C NP_002825.3:p.Gln510Pro
Ensemble ENST00000690210.1:c.1529A>C ENST00000690210.1:p.Gln510Pro
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 criteria provided, single submitter LEOPARD syndrome 1 germline unknown Detail
Pathogenic 2023-06-09 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2022-07-22 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2017-04-03 reviewed by expert panel Noonan syndrome with multiple lentigines germline Detail
Pathogenic 2019-06-28 criteria provided, single submitter Noonan syndrome 3 germline Detail
Pathogenic 2014-07-28 criteria provided, single submitter Noonan syndrome,Noonan syndrome with multiple lentigines germline Detail
Pathogenic 2014-07-28 criteria provided, single submitter Noonan syndrome,Noonan syndrome with multiple lentigines germline Detail
Pathogenic 2020-07-13 criteria provided, single submitter Noonan syndrome 1 de novo Detail
Pathogenic 2022-07-19 criteria provided, single submitter Noonan syndrome 1,LEOPARD syndrome 1 germline Detail
Pathogenic 2022-07-19 criteria provided, single submitter Noonan syndrome 1,LEOPARD syndrome 1 germline Detail
Pathogenic 2024-01-18 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 Exome sequencing revealed a pathogenic de novo germline variant in the PTPN11 ge... BeFree 24939587 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) AND LEOPARD syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) AND Noonan syndrome with multiple lentigines ClinVar Detail
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) AND Noonan syndrome 3 ClinVar Detail
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) AND PTPN11-related disorder ClinVar Detail
NA DisGeNET Detail
Exome sequencing revealed a pathogenic de novo germline variant in the PTPN11 gene (c.1529A>G; p.... 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
rs121918470 dbSNP
Genome
hg19
Position
chr12:112,926,909-112,926,909
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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