Variant NM_000492.4:c.3293G>A
Name | NM_000492.4:c.3293G>A |
Protein name | NP_000483.3:p.(Trp1098*) |
Genomic name (hg19) | chr7:g.117251788G>A UCSC gnomAD |
#Exon/intron | exon 20 |
Legacy Name | W1098X(TAG) |
Class | disease-causing |
WT sequence | TTCTTGTACCTGTCAACACTGCGCT G GTTCCAAATGAGAATAGAAATGATT |
Mutant sequence | TTCTTGTACCTGTCAACACTGCGCT A GTTCCAAATGAGAATAGAAATGATT |
dbSNP rs397508532 | Not found |
No patient found in CFTR-NGS catalogue |
No patient found in CFTR-France |
CFTR variants are clustered into five groups: |
|