Variant #0000009095 (NC_000011.10:g.108252824C>T, ATM(NM_000051.3):c.1810C>T)

Individual ID 00001770
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.108252824C>T
Reference -
DB-ID ATM_000028 See all 5 reported entries
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


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ATM NM_000051.3 ?/- 12 c.1810C>T p.(Pro604Ser) Hetero BRCA2 r.(?) -



Screenings


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Owner     
0000002050 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba Panel Cancer mama y Ovario (29 genes) 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, TP54 27-jul-2021 Multigenetic panel - 6 Claudia Martin-Hospital de Córdoba