Variant #0000009819 (NC_000011.10:g.108304762C>T, NM_000051.4:c.5584C>T (ATM))

Individual ID 00002661
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.108304762C>T
Reference -
DB-ID ATM_000147
dbSNP ID rs149362482
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
Date created 2024-01-18 20:39:28 -02:00 (-02)
Date last edited N/A
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
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DNA change (cDNA)     
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Co_ocurrence     
RNA change     
Review status     
ATM NM_000051.4 ?/? 37 c.5584C>T p.(Leu1862Phe) Hetero RAD51C r.(5584c>u) -



Screenings


AscendingScreening ID     
Template     
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Variants found     
Owner     
0000002964 DNA SEQ-NG Fundación para el Progreso de la Medicina CUSTOM HEREDITARY PANEL CANCER HEREDITARY ACD, AIP,AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A,CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1,MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE,POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4,SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2 24-nov-2023 Multigenetic panel - 2 Claudia Martin-Hospital de Córdoba

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