chr12:112489093:AG>CC Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,926,897-112,926,898 View the variant detail on this assembly version.
hg38 chr12:112,489,093-112,489,094

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.1517_1518delinsCC NP_002825.3:p.Gln506Pro
NM_001330437.1:c.1529_1530delinsCC NP_001317366.1:p.Gln510Pro
Ensemble ENST00000351677.7:c.1517_1518delinsCC ENST00000351677.7:p.Gln506Pro
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2007-01-01 criteria provided, single submitter RASopathy unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.694 Noonan syndrome We report on a 26-year-old female with features of Noonan syndrome-Multiple Lent... BeFree 22528600 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.1517_1518delinsCC (p.Gln506Pro) AND RASopathy ClinVar Detail
We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heteroz... 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
rs397509345 dbSNP
Genome
hg38
Position
chr12:112,489,093-112,489,094
Variant Type
snv
Reference Allele
AG
Alternative Allele
CC
Genome browser