Variant NM_000492.4:c.1397C>A
Name | NM_000492.4:c.1397C>A |
Protein name | NP_000483.3:p.(Ser466*) |
Genomic name (hg19) | chr7:g.117199522C>A UCSC gnomAD |
#Exon/intron | exon 11 |
Legacy Name | S466X(TAA) |
Class | disease-causing |
WT sequence | AATGATGGGTTTTATTTCCAGACTT C ACTTCTAATGGTGATTATGGGAGAA |
Mutant sequence | AATGATGGGTTTTATTTCCAGACTT A ACTTCTAATGGTGATTATGGGAGAA |
dbSNP rs121908805 | 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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