CFTR-NGS variants catalogue
Variant hg19:chr7:117162975T/C
Name | NM_000492.4:c.274-7978T>C |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117162975T>C UCSC gnomAD |
#Exon/intron | intron 3 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | GCTTAAAACAGATTAGGGAAAACTA T AGAAGGGGTGGGGTTTCGGAGTGCT |
Mutant sequence | GCTTAAAACAGATTAGGGAAAACTA C AGAAGGGGTGGGGTTTCGGAGTGCT |
MAF (GnomAD) | 6.98e-06 |
Splicing prediction (SpliceAI) | AG: 0.00 (50) AL: 0.00 (5) DG: 0.00 (42) DL: 0.00 (-2) |
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 | 1 |
---|---|
Infertility | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m9437 | Infertility | Montpellier | 150419_Altieri | heterozygous | PASS | 3024 | 198 |