Genomic variant #0000001222

Individual ID 00000089
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.117199646_117199648del
DNA change (hg38) g.117559592_117559594del
Published as -
ISCN -
DB-ID CFTR_000001 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CFTR NM_000492.3 ?/. 11 c.1521_1523del VUS r.(?) p.(Phe508del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000089 DNA SEQ-NG - - ATP7B, BTD, CFTR, ETFB, GALC, GLB1, IGHMBP2, SMPD1 9 LOVD-team, but with Curator vacancy