Variant NM_000492.4:c.170G>A
Name | NM_000492.4:c.170G>A |
Protein name | NP_000483.3:p.(Trp57*) |
Genomic name (hg19) | chr7:g.117149093G>A UCSC gnomAD |
#Exon/intron | exon 3 |
Legacy Name | W57X(TAG) |
Class | disease-causing |
WT sequence | CACTTTTTATTCTTTTGCAGAGAAT G GGATAGAGAGCTGGCTTCAAAGAAA |
Mutant sequence | CACTTTTTATTCTTTTGCAGAGAAT A GGATAGAGAGCTGGCTTCAAAGAAA |
dbSNP no rs | 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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