CFTR-NGS variants catalogue
Variant hg19:chr7:117180991TCA/T
Name | NM_000492.4:c.1116+606_1116+607delCA |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117181006_117181007del UCSC |
#Exon/intron | intron 8 |
Type in CFTR-NGS catalogue | microsatellite |
Class in CFTR-France | not reported |
WT sequence | GGGAGATGTCTCACACACACACACA CA TAAACACACACACTCATGTGTGCAG |
Mutant sequence | GGGAGATGTCTCACACACACACACA -- TAAACACACACACTCATGTGTGCAG |
MAF (GnomAD) | 1.40e-05 |
Splicing prediction (SpliceAI) | AG: 0.00 (42) AL: 0.00 (34) DG: 0.00 (-41) DL: 0.00 (-39) |
Not found | Not found | dbSNP no rs | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
not verified | not performed |
No patient found in CFTR-France |
TOTAL NUMBER OF INDIVIDUALS | 3 |
---|---|
Asymptomatic | 2 |
CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
MUCO07168 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | alleleBias | 45 | 0 |
MUCO07300 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | alleleBias | 42 | 0 |
m6426 | CF | Montpellier | 230414_varilh | heterozygous | alleleBias | 229 | 0 |