Variant #0000001585 (NC_000010.11:g.87952143G>A, NM_000314.6:c.518G>A (PTEN))

Individual ID 00000340
Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.87952143G>A
Published as -
Reference Jafri Malin Abdullah et al. (2006), dbSNP, ClinVar
DB-ID PTEN_000001 See all 2 reported entries
dbSNP ID rs121913294
Frequency 2/37
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 14:55:03 +08:00 (CST)
Date last edited 2021-09-01 15:13:42 +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 +?/. 6 c.518G>A - r.(?) p.(Arg173His) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000355 DNA PCR;SSCA PTEN 6 Nuur Athirah Binti Mohd Daud