CFTR-NGS variants catalogue
Variant hg19:chr7:117277113T/C
Name | NM_000492.4:c.3718-5379T>C |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117277113T>C UCSC gnomAD |
#Exon/intron | intron 22 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | CTTGAACTCCTAACCTCAAGTGATC T GCCCACCTTAGCCTCCCAAATTGCT |
Mutant sequence | CTTGAACTCCTAACCTCAAGTGATC C GCCCACCTTAGCCTCCCAAATTGCT |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | AG: 0.00 (-31) AL: 0.00 (12) DG: 0.00 (35) DL: 0.00 (-7) |
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 | 6 |
---|---|
Asymptomatic | 3 |
CF | 2 |
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m4793 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | alleleBias | 943 | 0 |
m5062 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | alleleBias | 1426 | 0 |
m93 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | alleleBias | 262 | 84 |
m2369 | CF | Montpellier | 230414_varilh | heterozygous | alleleBias | 1914 | 0 |
m6426 | CF | Montpellier | 230414_varilh | heterozygous | alleleBias | 768 | 0 |
m1552 | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | alleleBias | 705 | 0 |