chr12:112450362:A>T Detail (hg38) (PTPN11)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.182A>T NP_002825.3:p.Asp61Val
NM_001330437.1:c.182A>T NP_001317366.1:p.Asp61Val
NM_080601.1:c.182A>T NP_542168.1:p.Asp61Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM13022 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-07 criteria provided, multiple submitters, no conflicts 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>T (p.Asp61Val) 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
hg38
Position
chr12:112,450,362-112,450,362
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser