chr12:112450352:A>T Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,888,156-112,888,156 View the variant detail on this assembly version.
hg38 chr12:112,450,352-112,450,352

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.172A>T NP_002825.3:p.Asn58Tyr
NM_080601.1:c.172A>T NP_542168.1:p.Asn58Tyr
NM_001330437.1:c.172A>T NP_001317366.1:p.Asn58Tyr
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 COSM13032 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-07-10 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2020-02-24 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 Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenot... BeFree 16804314 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.172A>T (p.Asn58Tyr) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.172A>T (p.Asn58Tyr) AND RASopathy ClinVar Detail
NA DisGeNET Detail
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype? 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
rs397507505 dbSNP
Genome
hg38
Position
chr12:112,450,352-112,450,352
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser