CFTR-NGS variants catalogue
Variant hg19:chr7:117189206A/G
Name | NM_000492.4:c.1392+329A>G |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117189206A>G UCSC gnomAD |
#Exon/intron | intron 10 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | TTATCCATTCTTAACCAGAACAGAC A TTTTTTCAGAGCTGGTCCAGGAAAA |
Mutant sequence | TTATCCATTCTTAACCAGAACAGAC G TTTTTTCAGAGCTGGTCCAGGAAAA |
MAF (GnomAD) | 6.10e-03 |
Splicing prediction (SpliceAI) | AG: 0.00 (-7) AL: 0.00 (2) DG: 0.00 (47) DL: 0.00 (-42) |
Not found | Not found | dbSNP rs60363249 | 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 |
---|---|---|---|---|---|---|---|
9878 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | LowVariantFreq | 1267 | 939 |
9881 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | LowVariantFreq | 1341 | 744 |
9880 | CF | Montpellier | 160218_varilh | heterozygous | LowVariantFreq | 738 | 590 |