Variant #0000009818 (NC_000017.11:g.58695007AT[3], RAD51C(NM_058216.2):c.224_225dup)

Individual ID 00002661
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.58695007AT[3]
Reference -
DB-ID RAD51C_000016
dbSNP ID rs1598455598
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
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
RAD51C NM_058216.2 +/+ 2 c.224_225dup p.(Ala76MetfsTer26) Hetero N/A r.? -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
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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