Variant #0000003567 (NC_000011.10:g.108250981G>T, ATM(NM_000051.3):c.1516G>T)

Individual ID 00000453
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.108250981G>T
Reference -
DB-ID ATM_000023 See all 3 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laura Vargas Roig-IMBECU
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options


Gene ATM
Transcript ID NM_000051.3
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Exon 10
DNA change (cDNA) c.1516G>T
Protein p.(Gly506Cys)
Zygosity Hetero
Co_ocurrence no
RNA change r.(?)
Review status -


Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
ATM NM_000051.3 ?/? 10 c.1516G>T p.(Gly506Cys) Hetero no r.(?) -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000000510 DNA SEQ-NG Héritas Panel Héritas (12 genes) 14-aug-2017 - ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 5 Laura Vargas Roig-IMBECU

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