Variant #0000002890 (NC_000011.10:g.108256340G>T, ATM(NM_000051.3):c.2250G>T)

Individual ID 00000350
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.108256340G>T
Reference -
DB-ID ATM_000009
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-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     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
ATM NM_000051.3 ?/+? 14 c.2250G>T p.(Lys750Asn) Hetero ATM r.(?) RECLASSIFIED NOVEMBER 2020



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000399 DNA SEQ-NG GENDA;Blueprint Genetics Ataxia Panel Plus (141 genes) 5-sep-2017 Multigenetic panel - 2 Claudia Martin-Hospital de Córdoba