chr12:112910793:G>A Detail (hg19) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,910,793-112,910,793
hg38 chr12:112,472,989-112,472,989 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001330437.1:c.802G>A NP_001317366.1:p.Gly268Ser
NM_080601.1:c.802G>A NP_542168.1:p.Gly268Ser
NM_002834.3:c.802G>A NP_002825.3:p.Gly268Ser
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 COSM5762918 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-09-29 criteria provided, single submitter Noonan syndrome germline Detail
Pathogenic Likely pathogenic 2023-10-23 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-05-03 criteria provided, multiple submitters, no conflicts RASopathy germline Detail
Pathogenic 2019-09-09 criteria provided, single submitter LEOPARD syndrome 1 unknown Detail
Likely pathogenic 2023-11-30 criteria provided, single submitter germline Detail
Likely pathogenic 2021-09-13 criteria provided, single submitter Noonan syndrome 1,juvenile myelomonocytic leukemia,LEOPARD syndrome 1,metachondromatosis unknown Detail
Likely pathogenic 2021-09-13 criteria provided, single submitter Noonan syndrome 1,juvenile myelomonocytic leukemia,LEOPARD syndrome 1,metachondromatosis unknown Detail
Likely pathogenic 2021-09-13 criteria provided, single submitter Noonan syndrome 1,juvenile myelomonocytic leukemia,LEOPARD syndrome 1,metachondromatosis unknown Detail
Likely pathogenic 2021-09-13 criteria provided, single submitter Noonan syndrome 1,juvenile myelomonocytic leukemia,LEOPARD syndrome 1,metachondromatosis unknown Detail
Pathogenic Likely pathogenic 2023-11-07 criteria provided, multiple submitters, no conflicts Noonan syndrome 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Turner Syndrome, Male NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) AND LEOPARD syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) AND Cardiovascular phenotype ClinVar Detail
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) AND Noonan syndrome 1 ClinVar 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
rs397507527 dbSNP
Genome
hg19
Position
chr12:112,910,793-112,910,793
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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