Variant #0000001240 (NC_000007.13:g.117138367_117159446del, CFTR(NM_000492.3):c.54-5940_273+10250del)

Individual ID 00000046
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.117138367_117159446del
DNA change (hg38) g.117498313_117519392del
Published as INTRON 1_3, 21,080 BP DEL
ISCN -
DB-ID CFTR_000014 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CFTR NM_000492.3 ?/. 1i_3i c.54-5940_273+10250del r.del? p.(Ser18Argfs*16)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000046 DNA SEQ-NG - - AGXT, ATP7B, CFTR, CYP27A1, DPYD, EHMT1, GLB1, IGHMBP2, NPHS1, POLG, SERPINA1, SMPD1 14 Global Variome, with Curator vacancy