Variant #0000010191 (NC_000014.9:g.45175509G>A, FANCM(NM_020937.4):c.2755G>A)

Individual ID 00003152
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.45175509G>A
Reference -
DB-ID FANCM_000024
dbSNP ID rs184770388
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Guillermo Alberto-Instituto Fleming
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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FANCM NM_020937.4 ?/? 14 c.2755G>A p.(Glu919Lys) Hetero no r.(?) -



Screenings


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0000003470 DNA SEQ-NG;CNV CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS HEREDITARY CANCER SYNDROME PANEL (41 genes) APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2 19-jun-2024 Multigenetic panel - 2 Guillermo Alberto-Instituto Fleming