Variant #0000011965 (NC_000016.10:g.89803314C>T, FANCA(NM_000135.4):c.737G>A)

Individual ID 00005679
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.89803314C>T
Reference -
DB-ID chr16_000046
dbSNP ID rs55519520
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi - Fundacion Para el Progreso de la Medicina
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
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DNA change (cDNA)     
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Co_ocurrence     
RNA change     
Review status     
FANCA NM_000135.4 ?/? 8 c.737G>A p.(Gly246Glu) Hetero no r.(?) -



Screenings


AscendingScreening ID     
Template     
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Variants found     
Owner     
0000009871 DNA SEQ-NG;CNV Fundación para el Progreso de la Medicina Panel Cáncer Hereditario Custom ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCG, 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. 22-dec-2025 Multigenetic panel - 3 Norma Rossi - Fundacion Para el Progreso de la Medicina

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