chr10:87961047:ACTT> Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,720,804-89,720,807 
hg38 chr10:87,961,047-87,961,050

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.955_958delACTT NP_000305.3:p.Thr319Ter
NM_001304717.2:c.955_958delACTT NP_001291646.2:p.Thr319Ter
NM_001304718.1:c.955_958delACTT NP_001291647.1:p.Thr319Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic colorectal neoplasms, hereditary nonpolyposis somatic MGS000043
(TMGS000096)
Kohei Miyazono Tokyo University
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
skin melanoma MEK Inhibitor CI-1040,Akt Inhibitor MK2206 D Predictive Supports Sensitivity/Response Somatic 3 24504448 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
A 26-year old patient presented with vemurafenib resistant BRAF V600E-mutated cutaneous melanoma. Fi... CIViC Evidence 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
-
Genome
hg38
Position
chr10:87,961,047-87,961,050
Variant Type
snv
Reference Allele
ACTT
Alternative Allele
-
Variant (CIViC) (CIViC Variant)
V317FS
Transcript 1 (CIViC Variant)
ENST00000371953.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/605
Genome browser