Variant #0000011892 (NC_000007.14:g.117642613C>T, CFTR(NM_000492.4):c.3873+20C>T)

Individual ID 00005549
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.117642613C>T
Reference -
DB-ID chr7_000021
dbSNP ID -
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
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
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Co_ocurrence     
RNA change     
Review status     
CFTR NM_000492.4 ?/? 21i c.3873+20C>T p.? Hetero no r.(?) -



Screenings


AscendingScreening ID     
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Type of test     
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Variants found     
Owner     
0000009741 DNA SEQ-NG;CNV SENTIS ALK, APC, ATM, ATR, AXIN2, ACVRL1, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN2A, CHEK2, CFTR, EPCAM, EXT1, EXT2, ENG, EPAS1, ABRAXAS1, FANCA, FANCC, FH, FLCN, FANCG, GALNT12, GEN1, GREM1, HOXB13, KIT, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, MCM8, MCM9, MRE11, MSH3, NBN, NF1, NF2, NTHL1, PIK3CA, POLD1, POLE, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SPINK1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPC 26-aug-2025 Multigenetic panel - 2 Guillermo Alberto-Instituto Fleming

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