Variant #0000001578 (NC_000010.11:g.87933073G>C, NM_000314.6:c.314G>C (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.87933073G>C
Published as -
Reference N Zainuddin et al. (2004), dbSNP, ClinVar
DB-ID PTEN_000003 See all 2 reported entries
dbSNP ID rs780083983
Frequency 1/14
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 11:50:29 +08:00 (CST)
Date last edited 2021-09-01 14:51:52 +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.314G>C - r.(?) p.(Cys105Ser) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000353 DNA PCRm PTEN 5 Nuur Athirah Binti Mohd Daud