chr10:87894062:A> Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,653,819-89,653,819 
hg38 chr10:87,894,062-87,894,062

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.117delA NP_000305.3:p.Glu40LysfsTer14
NM_001304717.2:c.117delA NP_001291646.2:p.Glu40LysfsTer14
NM_001304718.1:c.117delA NP_001291647.1:p.Glu40LysfsTer14
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 601728 OMIM
HGNC 9588 HGNC
Ensembl ENSG00000171862 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6966919 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-12-04 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000314.8(PTEN):c.117del (p.Glu40fs) AND Hereditary cancer-predisposing syndrome 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
rs786204895 dbSNP
Genome
hg38
Position
chr10:87,894,062-87,894,062
Variant Type
snv
Reference Allele
A
Alternative Allele
-
Genome browser