Variant #0000001577 (NC_000010.11:g.87933147C>T, NM_000314.6:c.388C>T (PTEN))

Individual ID 00000338
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.87933147C>T
Published as -
Reference N Zainuddin et al. (2004), dbSNP, ClinVar
DB-ID PTEN_000002 See all 2 reported entries
dbSNP ID rs121909224
Frequency 2/14
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-01-10 11:34:15 +08:00 (CST)
Date last edited 2021-09-01 14:54:03 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
PTEN NM_000314.6 +/. 5 c.388C>T - r.(?) p.(Arg130*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000353 DNA PCRm PTEN 5 Nuur Athirah Binti Mohd Daud