chr12:112910793:G>T 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_002834.3:c.802G>T NP_002825.3:p.Gly268Cys
NM_080601.1:c.802G>T NP_542168.1:p.Gly268Cys
NM_001330437.1:c.802G>T NP_001317366.1:p.Gly268Cys
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-06-26 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2014-07-15 criteria provided, single submitter Noonan syndrome germline Detail
Pathogenic 2023-10-18 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2022-12-12 criteria provided, multiple submitters, no conflicts Noonan syndrome 1 unknown Detail
Pathogenic 2022-12-12 criteria provided, single submitter metachondromatosis unknown Detail
Pathogenic 2022-12-12 criteria provided, single submitter LEOPARD syndrome 1 unknown Detail
Pathogenic 2019-10-30 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
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) AND Metachondromatosis ClinVar Detail
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) AND LEOPARD syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) AND PTPN11-related disorder 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
T
East Asian Chromosome Counts (ExAC)
8594
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1636025133814289E-4
Chromosome Counts in All Race (ExAC)
119420
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.373806732540612E-6
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