CFTR-NGS variants catalogue
Variant hg19:chr7:117193319A/C
Name | NM_000492.4:c.1392+4442A>C |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117193319A>C UCSC gnomAD |
#Exon/intron | intron 10 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | CACACACATGCACACACATTTAAAT A GATGCATAGTATTCTATCATATGGA |
Mutant sequence | CACACACATGCACACACATTTAAAT C GATGCATAGTATTCTATCATATGGA |
MAF (GnomAD) | 4.89e-05 |
Splicing prediction (SpliceAI) | AG: 0.00 (10) AL: 0.00 (2) DG: 0.00 (8) DL: 0.00 (-3) |
Not found | Not found | dbSNP rs983745313 | 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 | 1 |
---|---|
CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
P1B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 2510 | 307 |