Variant #0000008913 (NC_000010.11:g.87863601G>C, PTEN(NM_000314.6):c.-869G>C)

Individual ID 00001151
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.87863601G>C
Reference -
DB-ID PTEN_000007
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi-Hospital de Córdoba
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

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DNA change (cDNA)     

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Co_ocurrence     

RNA change     

Review status     
PTEN NM_000314.6 ?/? 5'UTR c.-869G>C . Hetero no . -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001376 DNA CNV;SEQ-NG Hospital Privado Centro Médico de Córdoba Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) 15-aug-2019 Multigenetic panel - 1 Norma Rossi-Hospital de Córdoba