CFTR-NGS variants catalogue
Variant hg19:chr7:117157115G/C
Name | NM_000492.4:c.273+7919G>C |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117157115G>C UCSC gnomAD |
#Exon/intron | intron 3 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ACTCTATAAAACATGTTCTATCCAG G AAAAGAAACTATCATCAGAGTGAAC |
Mutant sequence | ACTCTATAAAACATGTTCTATCCAG C AAAAGAAACTATCATCAGAGTGAAC |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | AG: 0.00 (-47) AL: 0.46 (0) DG: 0.00 (-35) DL: 0.00 (-48) |
Not found | Not found | dbSNP rs915396616 | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
not verified | not performed |
No patient found in CFTR-NGS |
No patient found in CFTR-France |