chr10:89692851:T>C Detail (hg19) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,692,851-89,692,851
hg38 chr10:87,933,094-87,933,094 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.335T>C NP_000305.3:p.Leu112Pro
NM_001304717.2:c.335T>C NP_001291646.2:p.Leu112Pro
NM_001304718.1:c.335T>C NP_001291647.1:p.Leu112Pro
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 COSM5106 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided colon, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-02-12 no assertion criteria provided Lhermitte-Duclos disease germline Detail
Pathogenic 2017-06-28 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.243 Lhermitte-Duclos disease NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000314.8(PTEN):c.335T>C (p.Leu112Pro) AND Lhermitte-Duclos disease ClinVar Detail
NM_000314.8(PTEN):c.335T>C (p.Leu112Pro) AND not provided 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
rs121909230 dbSNP
Genome
hg19
Position
chr10:89,692,851-89,692,851
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser