CFTR-NGS variants catalogue
Name | NM_000492.4:c.148T>C |
Protein name | NP_000483.3:p.(Ser50Pro) |
Genomic name (hg19) | chr7:g.117144401T>C UCSC gnomAD |
#Exon/intron | exon 2 |
Legacy Name | S50P |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | TTCTGTTGATTCTGCTGACAATCTA T CTGAAAAATTGGAAAGGTATGTTCA |
Mutant sequence | TTCTGTTGATTCTGCTGACAATCTA C CTGAAAAATTGGAAAGGTATGTTCA |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
Not found | dbSNP no rs |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
No patient found in CFTR-NGS |
1 individual reported in CFTR-France |