chr10:89720804:ACTT> Detail (hg19) (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 not provided
Variant entry 24
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 COSM39566 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided caecum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic Endometrial cancer somatic MGS000082
(TMGS000165)
Kenjiro Kosaki
Kenjiro Kosaki
Keio University
Mutation View
not provided caecum not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
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
hg19
Position
chr10:89,720,804-89,720,807
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
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