chr12:112450415:C>A Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,888,219-112,888,219 View the variant detail on this assembly version.
hg38 chr12:112,450,415-112,450,415

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.235C>A NP_002825.3:p.Gln79Lys
NM_080601.1:c.235C>A NP_542168.1:p.Gln79Lys
NM_001330437.1:c.235C>A NP_001317366.1:p.Gln79Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2013-01-28 criteria provided, single submitter Noonan syndrome germline Detail
Likely pathogenic 2024-01-03 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
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys) AND RASopathy 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
rs397516803 dbSNP
Genome
hg38
Position
chr12:112,450,415-112,450,415
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser