chr10:89717733:TCAA> Detail (hg19) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,717,733-89,717,736
hg38 chr10:87,957,976-87,957,979 

HGVS

Type Transcript Protein
RefSeq NM_001304718.1:c.758_761delTCAA NP_001291647.1:p.Ile253LysfsTer2
NM_000314.6:c.758_761delTCAA NP_000305.3:p.Ile253LysfsTer2
NM_001304717.2:c.758_761delTCAA NP_001291646.2:p.Ile253LysfsTer2
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-03-25 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2017-05-15 criteria provided, single submitter PTEN hamartoma tumor 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.758_761del (p.Ile253fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.758_761del (p.Ile253fs) AND PTEN hamartoma tumor 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
rs786204903 dbSNP
Genome
hg19
Position
chr10:89,717,733-89,717,736
Variant Type
snv
Reference Allele
TCAA
Alternative Allele
-
Genome browser