Genomic variant #0000001229

Individual ID 00000065
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.117282547_117282548insT
DNA change (hg38) g.117642493_117642494insT
Published as -
ISCN -
DB-ID CFTR_000030 See all 2 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 ?/. 23 c.3773_3774insT VUS r.(?) p.(Leu1258Phefs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000065 DNA SEQ-NG - - ATP7B, CFTR, ETFB, GLB1, MPL, NHLRC1, NPHS1, SERPINA1, SMPD1 9 LOVD-team, but with Curator vacancy