chr10:87933060:A>T Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,692,817-89,692,817 View the variant detail on this assembly version.
hg38 chr10:87,933,060-87,933,060

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.301A>T NP_000305.3:p.Ile101Phe
NM_001304717.2:c.301A>T NP_001291646.2:p.Ile101Phe
NM_001304718.1:c.301A>T NP_001291647.1:p.Ile101Phe
Summary

MGeND

Clinical significance not provided
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
not provided 2018/03/08 Adenoid cystic carcinoma somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs786204857 dbSNP
Genome
hg38
Position
chr10:87,933,060-87,933,060
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser