Variant #0000011569 (NC_000022.11:chr22:29.115.384, CHEK2(NM_007194.4):c.682A>T)

Individual ID 00005219
Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) chr22:29.115.384
Reference -
DB-ID chr22_000005
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Instituto Nacional del Cancer
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     
CHEK2 NM_007194.4 ?/? 6 c.682A>T p.(Ser228Cys) Hetero no r.? -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000009403 DNA SEQ-NG GENOS 101 genes panel: ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, DDB2, DICER1, DKC1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FAN1, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, HRAS, KIF1B, KIT, LZTR1, MAX, MDH2, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, POT1, PRF1, PRKAR1A, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RHBDF2, RNF43, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRAP53, WT1, XRCC2 14-May-2025 Multigenetic panel - 2 Pablo Kalfayan-Hospital Italiano

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