chr12:112486476:G>C Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,924,280-112,924,280 View the variant detail on this assembly version.
hg38 chr12:112,486,476-112,486,476

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.1226G>C NP_002825.3:p.Gly409Ala
NM_080601.1:c.1226G>C NP_542168.1:p.Gly409Ala
NM_001330437.1:c.1238G>C NP_001317366.1:p.Gly413Ala
Summary

MGeND

Clinical significance
Variant entry
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 Uncertain significance
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
Uncertain significance 2018-04-02 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2017-01-01 criteria provided, single submitter neurofibroma unknown Detail
Uncertain significance 2023-12-11 criteria provided, single submitter RASopathy germline Detail
Uncertain significance 2020-02-01 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Uncertain significance 2021-08-11 criteria provided, single submitter germline Detail
Uncertain significance 2021-12-18 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,metachondromatosis,Noonan syndrome 1 unknown Detail
Uncertain significance 2021-12-18 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,metachondromatosis,Noonan syndrome 1 unknown Detail
Uncertain significance 2021-12-18 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,metachondromatosis,Noonan syndrome 1 unknown Detail
Uncertain significance 2021-12-18 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,metachondromatosis,Noonan syndrome 1 unknown 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.1226G>C (p.Gly409Ala) AND not specified ClinVar Detail
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) AND Neurofibroma ClinVar Detail
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) AND Cardiovascular phenotype ClinVar Detail
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) AND multiple conditions 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
rs201247699 dbSNP
Genome
hg38
Position
chr12:112,486,476-112,486,476
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120988
Allele Counts in All Race (ExAC)
12
Heterozygous Counts in All Race (ExAC)
12
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.918339008827322E-5
Genome browser