CFTR-NGS variants catalogue
Variant hg19:chr7:117123040C/T
Name | NM_000492.4:c.53+2839C>T |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117123040C>T UCSC gnomAD |
#Exon/intron | intron 1 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | GATGTGGGGTCTCCTGTAAACTCTG C AGTTAGTCTCAAGTAAGACCAAAGA |
Mutant sequence | GATGTGGGGTCTCCTGTAAACTCTG T AGTTAGTCTCAAGTAAGACCAAAGA |
MAF (GnomAD) | 6.98e-06 |
Splicing prediction (SpliceAI) | AG: 0.00 (49) AL: 0.00 (12) DG: 0.00 (-2) DL: 0.00 (12) |
Not found | Not found | dbSNP rs1228803181 | 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 |
---|---|---|---|---|---|---|---|
9078 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 2784 | 270 |