chr12:112888166:A>C Detail (hg19) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,888,166-112,888,166
hg38 chr12:112,450,362-112,450,362 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.182A>C NP_002825.3:p.Asp61Ala
NM_080601.1:c.182A>C NP_542168.1:p.Asp61Ala
NM_001330437.1:c.182A>C NP_001317366.1:p.Asp61Ala
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 COSM5945275 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2013-08-09 criteria provided, single submitter Noonan syndrome germline Detail
Pathogenic 2018-08-20 criteria provided, single submitter RASopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Turner Syndrome, Male NA CLINVAR Detail
0.694 Noonan syndrome NA CLINVAR Detail
0.582 juvenile myelomonocytic leukemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala) AND RASopathy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs121918461 dbSNP
Genome
hg19
Position
chr12:112,888,166-112,888,166
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Genome browser