Variant #0000011963 (NC_000011.10:g.64807890C>G, MEN1(NM_001370259.2):c.654+1G>C)

Individual ID 00005679
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.64807890C>G
Reference -
DB-ID chr11_000030
dbSNP ID -
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
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Variant on transcripts


Gene     
AscendingTranscript     
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DNA change (cDNA)     
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Co_ocurrence     
RNA change     
Review status     
MEN1 NM_001370259.2 ?/? 4i c.654+1G>C p.? Hetero no r.spl? -



Screenings


AscendingScreening ID     
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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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