Variant NM_000492.4:c.57G>A
Name | NM_000492.4:c.57G>A |
Protein name | NP_000483.3:p.(Trp19Ter) |
Genomic name (hg19) | chr7:g.117144310G>A UCSC gnomAD |
#Exon/intron | exon 2 |
Legacy Name | W19X |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | GTTCCTCCTCTCTTTATTTTAGCTG G ACCAGACCAATTTTGAGGAAAGGAT |
Mutant sequence | GTTCCTCCTCTCTTTATTTTAGCTG A ACCAGACCAATTTTGAGGAAAGGAT |
dbSNP rs397508762 | Not found |
No patient found in CFTR-NGS catalogue |
No patient found in CFTR-France |
CFTR variants are clustered into five groups: |
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