CFTR-NGS variants catalogue
Variant hg19:chr7:117304166G/T
Name | NM_000492.4:c.3964-576G>T |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117304166G>T UCSC gnomAD |
#Exon/intron | intron 24 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ACAGTTAGTTTTTATGAATTCAAGA G ATGAATAGCAATTTTCCATATGTAA |
Mutant sequence | ACAGTTAGTTTTTATGAATTCAAGA T ATGAATAGCAATTTTCCATATGTAA |
MAF (GnomAD) | 8.52e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (43) AL: 0.00 (-21) DG: 0.00 (-23) DL: 0.00 (21) |
Not found | Not found | dbSNP rs187374930 | 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 |
---|---|
Pending (NBS) | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
6150 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | PASS | 3024 | 312 |